ReDisulphID

a tool for identifying redox-active disulphides from structures

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Sodium channel protein type 5 subunit alpha

Intramolecular
Cysteine 699 and cysteine 700
Cysteine 335 and cysteine 341
Cysteine 906 and cysteine 915
Cysteine 1728 and cysteine 1742
Cysteine 1363 and cysteine 1384
Cysteine 280 and cysteine 326
Cysteine 326 and cysteine 335
Cysteine 280 and cysteine 335
Cysteine 326 and cysteine 341
Cysteine 280 and cysteine 341
More...
A redox-regulated disulphide may form within Sodium channel protein type 5 subunit alpha at these cysteines.

Relevent regions

In BRGDA1 and LQT3; dbSNP:rs199473147.
original residue
P
variation residue
L
position
701
score
72.72727272727273
distance
5.309934
seq distance
1
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473147.
original residue
P
variation residue
L
position
701
score
72.72727272727273
distance
5.309934
seq distance
1
chain
A
In dbSNP:rs199473148.
original residue
S
variation residue
F
position
705
score
100.0
distance
9.043198
seq distance
5
chain
A
In dbSNP:rs199473148.
original residue
S
variation residue
F
position
705
score
100.0
distance
9.043198
seq distance
5
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473157.
original residue
D
variation residue
N
position
772
score
100.0
distance
13.751846
seq distance
72
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473157.
original residue
D
variation residue
N
position
772
score
100.0
distance
13.751846
seq distance
72
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473158.
original residue
P
variation residue
S
position
773
score
100.0
distance
17.092405
seq distance
73
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473158.
original residue
P
variation residue
S
position
773
score
100.0
distance
17.092405
seq distance
73
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473156.
original residue
M
variation residue
R
position
764
score
100.0
distance
21.574183
seq distance
64
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473156.
original residue
M
variation residue
R
position
764
score
100.0
distance
21.574183
seq distance
64
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473159.
original residue
V
variation residue
I
position
789
score
100.0
distance
27.247845
seq distance
89
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473159.
original residue
V
variation residue
I
position
789
score
100.0
distance
27.247845
seq distance
89
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473154.
original residue
G
variation residue
E
position
758
score
100.0
distance
27.628359
seq distance
58
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473154.
original residue
G
variation residue
E
position
758
score
100.0
distance
27.628359
seq distance
58
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473149.
original residue
P
variation residue
L
position
717
score
100.0
distance
28.11077
seq distance
17
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473149.
original residue
P
variation residue
L
position
717
score
100.0
distance
28.11077
seq distance
17
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs137854606.
original residue
G
variation residue
C
position
797
score
50.0
distance
31.293
seq distance
97
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs137854606.
original residue
G
variation residue
C
position
797
score
50.0
distance
31.293
seq distance
97
chain
A
In BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation.
original residue
K
variation residue
E
position
817
score
100.0
distance
34.06179
seq distance
117
chain
A
In BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation.
original residue
K
variation residue
E
position
817
score
100.0
distance
34.06179
seq distance
117
chain
A
In BRGDA1; dbSNP:rs199473584.
original residue
R
variation residue
Q
position
814
score
100.0
distance
34.897373
seq distance
114
chain
A
In BRGDA1; dbSNP:rs199473584.
original residue
R
variation residue
Q
position
814
score
100.0
distance
34.897373
seq distance
114
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473162.
original residue
F
variation residue
Y
position
816
score
100.0
distance
37.139828
seq distance
116
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473162.
original residue
F
variation residue
Y
position
816
score
100.0
distance
37.139828
seq distance
116
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473153.
original residue
G
variation residue
R
position
752
score
100.0
distance
37.402622
seq distance
52
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473153.
original residue
G
variation residue
R
position
752
score
100.0
distance
37.402622
seq distance
52
chain
A
In BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no domiFalset negative effect.
original residue
L
variation residue
Q
position
812
score
100.0
distance
38.828854
seq distance
112
chain
A
In BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no domiFalset negative effect.
original residue
L
variation residue
Q
position
812
score
100.0
distance
38.828854
seq distance
112
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473152.
original residue
Q
variation residue
R
position
750
score
100.0
distance
39.27126
seq distance
50
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473152.
original residue
Q
variation residue
R
position
750
score
100.0
distance
39.27126
seq distance
50
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473160.
original residue
R
variation residue
P
position
808
score
100.0
distance
40.002525
seq distance
108
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473160.
original residue
R
variation residue
P
position
808
score
100.0
distance
40.002525
seq distance
108
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473150.
original residue
T
variation residue
I
position
731
score
100.0
distance
40.31142
seq distance
31
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473150.
original residue
T
variation residue
I
position
731
score
100.0
distance
40.31142
seq distance
31
chain
A
Phosphoserine
position
805
score
59.09090909090909
distance
44.934803
seq distance
105
chain
A
Phosphoserine
position
805
score
59.09090909090909
distance
44.934803
seq distance
105
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473582.
original residue
E
variation residue
K
position
746
score
100.0
distance
45.379528
seq distance
46
chain
A
In dbSNP:rs199473193.
original residue
E
variation residue
K
position
746
score
50.0
distance
45.379528
seq distance
46
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473582.
original residue
E
variation residue
K
position
746
score
100.0
distance
45.379528
seq distance
46
chain
A
In dbSNP:rs199473193.
original residue
E
variation residue
K
position
746
score
50.0
distance
45.379528
seq distance
46
chain
A
In BRGDA1; dbSNP:rs137854611.
original residue
A
variation residue
E
position
735
score
100.0
distance
45.810863
seq distance
35
chain
A
In BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs137854611.
original residue
A
variation residue
V
position
735
score
100.0
distance
45.810863
seq distance
35
chain
A
In BRGDA1; dbSNP:rs137854611.
original residue
A
variation residue
E
position
735
score
100.0
distance
45.810863
seq distance
35
chain
A
In BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs137854611.
original residue
A
variation residue
V
position
735
score
100.0
distance
45.810863
seq distance
35
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473228.
original residue
F
variation residue
L
position
1344
score
100.0
distance
46.326912
seq distance
644
chain
A
In BRGDA1; dbSNP:rs199473229.
original residue
F
variation residue
S
position
1344
score
100.0
distance
46.326912
seq distance
644
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473228.
original residue
F
variation residue
L
position
1344
score
100.0
distance
46.326912
seq distance
644
chain
A
In BRGDA1; dbSNP:rs199473229.
original residue
F
variation residue
S
position
1344
score
100.0
distance
46.326912
seq distance
644
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473232.
original residue
M
variation residue
R
position
1351
score
100.0
distance
46.45123
seq distance
651
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473232.
original residue
M
variation residue
R
position
1351
score
100.0
distance
46.45123
seq distance
651
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473230.
original residue
L
variation residue
I
position
1346
score
100.0
distance
47.435616
seq distance
646
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473231.
original residue
L
variation residue
P
position
1346
score
100.0
distance
47.435616
seq distance
646
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473230.
original residue
L
variation residue
I
position
1346
score
100.0
distance
47.435616
seq distance
646
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473231.
original residue
L
variation residue
P
position
1346
score
100.0
distance
47.435616
seq distance
646
chain
A
In LQT3; also in SIDS; dbSNP:rs137854605.
original residue
S
variation residue
N
position
941
score
81.81818181818183
distance
48.668255
seq distance
241
chain
A
In LQT3; also in SIDS; dbSNP:rs137854605.
original residue
S
variation residue
N
position
941
score
81.81818181818183
distance
48.668255
seq distance
241
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473164.
original residue
L
variation residue
P
position
839
score
100.0
distance
49.226738
seq distance
139
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473164.
original residue
L
variation residue
P
position
839
score
100.0
distance
49.226738
seq distance
139
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473233.
original residue
V
variation residue
M
position
1353
score
100.0
distance
50.098778
seq distance
653
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473233.
original residue
V
variation residue
M
position
1353
score
100.0
distance
50.098778
seq distance
653
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473613.
original residue
Y
variation residue
C
position
1449
score
100.0
distance
51.338043
seq distance
749
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473613.
original residue
Y
variation residue
C
position
1449
score
100.0
distance
51.338043
seq distance
749
chain
A
In BRGDA1; dbSNP:rs199473239.
original residue
V
variation residue
L
position
1405
score
100.0
distance
51.470963
seq distance
705
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473239.
original residue
V
variation residue
M
position
1405
score
100.0
distance
51.470963
seq distance
705
chain
A
In BRGDA1; dbSNP:rs199473239.
original residue
V
variation residue
L
position
1405
score
100.0
distance
51.470963
seq distance
705
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473239.
original residue
V
variation residue
M
position
1405
score
100.0
distance
51.470963
seq distance
705
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473227.
original residue
L
variation residue
V
position
1338
score
100.0
distance
51.798233
seq distance
638
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473227.
original residue
L
variation residue
V
position
1338
score
100.0
distance
51.798233
seq distance
638
chain
A
In LQT3 and SIDS; dbSNP:rs199473604.
original residue
S
variation residue
Y
position
1333
score
100.0
distance
52.20096
seq distance
633
chain
A
In LQT3 and SIDS; dbSNP:rs199473604.
original residue
S
variation residue
Y
position
1333
score
100.0
distance
52.20096
seq distance
633
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473557.
original residue
L
variation residue
P
position
136
score
100.0
distance
52.758533
seq distance
563
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473557.
original residue
L
variation residue
P
position
136
score
100.0
distance
52.758533
seq distance
563
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473250.
original residue
I
variation residue
L
position
1448
score
100.0
distance
52.816704
seq distance
748
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473251.
original residue
I
variation residue
T
position
1448
score
100.0
distance
52.816704
seq distance
748
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473250.
original residue
I
variation residue
L
position
1448
score
100.0
distance
52.816704
seq distance
748
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473251.
original residue
I
variation residue
T
position
1448
score
100.0
distance
52.816704
seq distance
748
chain
A
In ATFB10; dbSNP:rs199473060.
original residue
M
variation residue
I
position
138
score
100.0
distance
52.86595
seq distance
561
chain
A
In ATFB10; dbSNP:rs199473060.
original residue
M
variation residue
I
position
138
score
100.0
distance
52.86595
seq distance
561
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473225.
original residue
P
variation residue
L
position
1332
score
100.0
distance
53.245285
seq distance
632
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473225.
original residue
P
variation residue
L
position
1332
score
100.0
distance
53.245285
seq distance
632
chain
A
In ATFB10; dbSNP:rs199473111.
original residue
E
variation residue
K
position
428
score
63.63636363636363
distance
53.301437
seq distance
271
chain
A
In ATFB10; dbSNP:rs199473111.
original residue
E
variation residue
K
position
428
score
63.63636363636363
distance
53.301437
seq distance
271
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473254.
original residue
V
variation residue
F
position
1468
score
100.0
distance
53.36397
seq distance
768
chain
A
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41315493.
original residue
V
variation residue
L
position
1468
score
54.54545454545454
distance
53.36397
seq distance
768
chain
A
In ATFB10; dbSNP:rs41315493.
original residue
V
variation residue
M
position
1468
score
54.54545454545454
distance
53.36397
seq distance
768
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473254.
original residue
V
variation residue
F
position
1468
score
100.0
distance
53.36397
seq distance
768
chain
A
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41315493.
original residue
V
variation residue
L
position
1468
score
54.54545454545454
distance
53.36397
seq distance
768
chain
A
In ATFB10; dbSNP:rs41315493.
original residue
V
variation residue
M
position
1468
score
54.54545454545454
distance
53.36397
seq distance
768
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473252.
original residue
V
variation residue
D
position
1451
score
100.0
distance
54.16069
seq distance
751
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473252.
original residue
V
variation residue
D
position
1451
score
100.0
distance
54.16069
seq distance
751
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473614.
original residue
N
variation residue
Y
position
1463
score
100.0
distance
54.170464
seq distance
763
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473614.
original residue
N
variation residue
Y
position
1463
score
100.0
distance
54.170464
seq distance
763
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473226.
original residue
I
variation residue
V
position
1334
score
100.0
distance
54.275703
seq distance
634
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473226.
original residue
I
variation residue
V
position
1334
score
100.0
distance
54.275703
seq distance
634
chain
A
In SSS1 and BRGDA1; dbSNP:rs137854612.
original residue
G
variation residue
R
position
1408
score
100.0
distance
54.38501
seq distance
708
chain
A
In SSS1 and BRGDA1; dbSNP:rs137854612.
original residue
G
variation residue
R
position
1408
score
100.0
distance
54.38501
seq distance
708
chain
A
In LQT3; unknown pathological significance; dbSNP:rs761375502.
original residue
variation residue
position
429
score
54.54545454545454
distance
54.640293
seq distance
270
chain
A
In LQT3; unknown pathological significance; dbSNP:rs761375502.
original residue
variation residue
position
429
score
54.54545454545454
distance
54.640293
seq distance
270
chain
A
In LQT3; dbSNP:rs199473253.
original residue
S
variation residue
Y
position
1458
score
100.0
distance
54.77002
seq distance
758
chain
A
In LQT3; dbSNP:rs199473253.
original residue
S
variation residue
Y
position
1458
score
100.0
distance
54.77002
seq distance
758
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473609.
original residue
G
variation residue
E
position
1406
score
100.0
distance
54.773582
seq distance
706
chain
A
In BRGDA1; dbSNP:rs199473240.
original residue
G
variation residue
R
position
1406
score
100.0
distance
54.773582
seq distance
706
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473609.
original residue
G
variation residue
E
position
1406
score
100.0
distance
54.773582
seq distance
706
chain
A
In BRGDA1; dbSNP:rs199473240.
original residue
G
variation residue
R
position
1406
score
100.0
distance
54.773582
seq distance
706
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473610.
original residue
Y
variation residue
C
position
1409
score
100.0
distance
54.957127
seq distance
709
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473610.
original residue
Y
variation residue
C
position
1409
score
100.0
distance
54.957127
seq distance
709
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs45471994.
original residue
V
variation residue
I
position
232
score
100.0
distance
55.553654
seq distance
467
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs45471994.
original residue
V
variation residue
I
position
232
score
100.0
distance
55.553654
seq distance
467
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473247.
original residue
G
variation residue
V
position
1433
score
100.0
distance
55.681095
seq distance
733
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473247.
original residue
G
variation residue
V
position
1433
score
100.0
distance
55.681095
seq distance
733
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473241.
original residue
L
variation residue
F
position
1412
score
100.0
distance
55.965355
seq distance
712
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473241.
original residue
L
variation residue
F
position
1412
score
100.0
distance
55.965355
seq distance
712
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473234.
original residue
G
variation residue
W
position
1358
score
100.0
distance
56.157703
seq distance
658
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473234.
original residue
G
variation residue
W
position
1358
score
100.0
distance
56.157703
seq distance
658
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473061.
original residue
V
variation residue
M
position
146
score
100.0
distance
56.244385
seq distance
553
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473061.
original residue
V
variation residue
M
position
146
score
100.0
distance
56.244385
seq distance
553
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473255.
original residue
N
variation residue
S
position
1472
score
100.0
distance
56.368587
seq distance
772
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473255.
original residue
N
variation residue
S
position
1472
score
100.0
distance
56.368587
seq distance
772
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473235.
original residue
K
variation residue
N
position
1359
score
100.0
distance
57.41835
seq distance
659
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473235.
original residue
K
variation residue
N
position
1359
score
100.0
distance
57.41835
seq distance
659
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473166.
original residue
I
variation residue
F
position
848
score
100.0
distance
57.54804
seq distance
148
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473166.
original residue
I
variation residue
F
position
848
score
100.0
distance
57.54804
seq distance
148
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473179.
original residue
L
variation residue
P
position
935
score
100.0
distance
57.672047
seq distance
235
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473179.
original residue
L
variation residue
P
position
935
score
100.0
distance
57.672047
seq distance
235
chain
A
In BRGDA1; dbSNP:rs185492581.
original residue
K
variation residue
E
position
126
score
100.0
distance
57.718155
seq distance
573
chain
A
In BRGDA1; dbSNP:rs185492581.
original residue
K
variation residue
E
position
126
score
100.0
distance
57.718155
seq distance
573
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473045.
original residue
R
variation residue
H
position
1432
score
54.54545454545454
distance
57.72443
seq distance
732
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473245.
original residue
R
variation residue
G
position
1432
score
100.0
distance
57.72443
seq distance
732
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473246.
original residue
R
variation residue
S
position
1432
score
100.0
distance
57.72443
seq distance
732
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473045.
original residue
R
variation residue
H
position
1432
score
54.54545454545454
distance
57.72443
seq distance
732
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473245.
original residue
R
variation residue
G
position
1432
score
100.0
distance
57.72443
seq distance
732
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473246.
original residue
R
variation residue
S
position
1432
score
100.0
distance
57.72443
seq distance
732
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473612.
original residue
A
variation residue
V
position
1428
score
100.0
distance
58.003853
seq distance
728
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473612.
original residue
A
variation residue
V
position
1428
score
100.0
distance
58.003853
seq distance
728
chain
A
In BRGDA1; dbSNP:rs199473074.
original residue
I
variation residue
V
position
230
score
100.0
distance
58.0626
seq distance
469
chain
A
In BRGDA1; dbSNP:rs199473074.
original residue
I
variation residue
V
position
230
score
100.0
distance
58.0626
seq distance
469
chain
A
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
P
position
1330
score
100.0
distance
58.07891
seq distance
630
chain
A
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
T
position
1330
score
100.0
distance
58.07891
seq distance
630
chain
A
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
P
position
1330
score
100.0
distance
58.07891
seq distance
630
chain
A
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
T
position
1330
score
100.0
distance
58.07891
seq distance
630
chain
A
In BRGDA1; dbSNP:rs199473586.
original residue
F
variation residue
L
position
851
score
100.0
distance
59.542816
seq distance
151
chain
A
In BRGDA1; dbSNP:rs199473586.
original residue
F
variation residue
L
position
851
score
100.0
distance
59.542816
seq distance
151
chain
A
Induces accelerated recovery from channel fast inactivation.
original residue
Q
variation residue
K
position
1476
score
100.0
distance
59.931164
seq distance
776
chain
A
Induces accelerated recovery from channel fast inactivation.
original residue
Q
variation residue
K
position
1476
score
100.0
distance
59.931164
seq distance
776
chain
A
In LQT3; dbSNP:rs199473256.
original residue
F
variation residue
C
position
1473
score
100.0
distance
60.094097
seq distance
773
chain
A
In LQT3; dbSNP:rs199473256.
original residue
F
variation residue
C
position
1473
score
100.0
distance
60.094097
seq distance
773
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473236.
original residue
F
variation residue
C
position
1360
score
100.0
distance
60.350048
seq distance
660
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473236.
original residue
F
variation residue
C
position
1360
score
100.0
distance
60.350048
seq distance
660
chain
A
In BRGDA1.
original residue
variation residue
position
1479
score
100.0
distance
60.353577
seq distance
779
chain
A
In BRGDA1.
original residue
variation residue
position
1479
score
100.0
distance
60.353577
seq distance
779
chain
A
In BRGDA1; dbSNP:rs199473561.
original residue
A
variation residue
V
position
226
score
100.0
distance
60.855854
seq distance
473
chain
A
In BRGDA1; dbSNP:rs199473561.
original residue
A
variation residue
V
position
226
score
100.0
distance
60.855854
seq distance
473
chain
A
In BRGDA1; dbSNP:rs199473170.
original residue
F
variation residue
I
position
892
score
100.0
distance
60.869064
seq distance
192
chain
A
In BRGDA1; dbSNP:rs199473170.
original residue
F
variation residue
I
position
892
score
100.0
distance
60.869064
seq distance
192
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473076.
original residue
V
variation residue
M
position
240
score
100.0
distance
61.047596
seq distance
459
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473076.
original residue
V
variation residue
M
position
240
score
100.0
distance
61.047596
seq distance
459
chain
A
In LQT3; dbSNP:rs199473059.
original residue
V
variation residue
L
position
125
score
100.0
distance
61.04889
seq distance
574
chain
A
In LQT3; dbSNP:rs199473059.
original residue
V
variation residue
L
position
125
score
100.0
distance
61.04889
seq distance
574
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473244.
original residue
A
variation residue
S
position
1427
score
100.0
distance
61.692596
seq distance
727
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473244.
original residue
A
variation residue
S
position
1427
score
100.0
distance
61.692596
seq distance
727
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473249.
original residue
E
variation residue
Q
position
1441
score
100.0
distance
61.881844
seq distance
741
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473249.
original residue
E
variation residue
Q
position
1441
score
100.0
distance
61.881844
seq distance
741
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473569.
original residue
A
variation residue
E
position
413
score
100.0
distance
62.499115
seq distance
286
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473110.
original residue
A
variation residue
T
position
413
score
100.0
distance
62.499115
seq distance
286
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473569.
original residue
A
variation residue
E
position
413
score
100.0
distance
62.499115
seq distance
286
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473110.
original residue
A
variation residue
T
position
413
score
100.0
distance
62.499115
seq distance
286
chain
A
In BRGDA1; dbSNP:rs199473173.
original residue
C
variation residue
S
position
896
score
100.0
distance
62.725872
seq distance
196
chain
A
In BRGDA1; dbSNP:rs199473173.
original residue
C
variation residue
S
position
896
score
100.0
distance
62.725872
seq distance
196
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473169.
original residue
H
variation residue
P
position
886
score
100.0
distance
62.77808
seq distance
186
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473169.
original residue
H
variation residue
P
position
886
score
100.0
distance
62.77808
seq distance
186
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473248.
original residue
P
variation residue
L
position
1438
score
100.0
distance
62.7944
seq distance
738
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473248.
original residue
P
variation residue
L
position
1438
score
100.0
distance
62.7944
seq distance
738
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473307.
original residue
L
variation residue
F
position
1761
score
100.0
distance
63.39493
seq distance
1061
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473308.
original residue
L
variation residue
H
position
1761
score
100.0
distance
63.39493
seq distance
1061
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473307.
original residue
L
variation residue
F
position
1761
score
100.0
distance
63.39493
seq distance
1061
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473308.
original residue
L
variation residue
H
position
1761
score
100.0
distance
63.39493
seq distance
1061
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473171.
original residue
R
variation residue
C
position
893
score
100.0
distance
63.496136
seq distance
193
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473172.
original residue
R
variation residue
H
position
893
score
100.0
distance
63.496136
seq distance
193
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473171.
original residue
R
variation residue
C
position
893
score
100.0
distance
63.496136
seq distance
193
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473172.
original residue
R
variation residue
H
position
893
score
100.0
distance
63.496136
seq distance
193
chain
A
In LQT3; dbSNP:rs199473071.
original residue
R
variation residue
Q
position
225
score
100.0
distance
63.63088
seq distance
474
chain
A
In PFHB1A, BRGDA1 and LQT3; dbSNP:rs199473072.
original residue
R
variation residue
W
position
225
score
100.0
distance
63.63088
seq distance
474
chain
A
In LQT3; dbSNP:rs199473071.
original residue
R
variation residue
Q
position
225
score
100.0
distance
63.63088
seq distance
474
chain
A
In PFHB1A, BRGDA1 and LQT3; dbSNP:rs199473072.
original residue
R
variation residue
W
position
225
score
100.0
distance
63.63088
seq distance
474
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473309.
original residue
V
variation residue
F
position
1764
score
100.0
distance
64.09974
seq distance
1064
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473309.
original residue
V
variation residue
F
position
1764
score
100.0
distance
64.09974
seq distance
1064
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473063.
original residue
K
variation residue
N
position
175
score
100.0
distance
64.189064
seq distance
524
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473063.
original residue
K
variation residue
N
position
175
score
100.0
distance
64.189064
seq distance
524
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473062.
original residue
E
variation residue
K
position
161
score
100.0
distance
64.57833
seq distance
538
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473062.
original residue
E
variation residue
Q
position
161
score
100.0
distance
64.57833
seq distance
538
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473062.
original residue
E
variation residue
K
position
161
score
100.0
distance
64.57833
seq distance
538
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473062.
original residue
E
variation residue
Q
position
161
score
100.0
distance
64.57833
seq distance
538
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473589.
original residue
N
variation residue
S
position
927
score
100.0
distance
64.61447
seq distance
227
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473589.
original residue
N
variation residue
S
position
927
score
100.0
distance
64.61447
seq distance
227
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473222.
original residue
A
variation residue
S
position
1326
score
100.0
distance
64.66271
seq distance
626
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473222.
original residue
A
variation residue
S
position
1326
score
100.0
distance
64.66271
seq distance
626
chain
A
In BRGDA1; dbSNP:rs199473608.
original residue
S
variation residue
I
position
1382
score
100.0
distance
64.88327
seq distance
682
chain
A
In BRGDA1; dbSNP:rs199473608.
original residue
S
variation residue
I
position
1382
score
100.0
distance
64.88327
seq distance
682
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473178.
original residue
L
variation residue
P
position
928
score
100.0
distance
64.95655
seq distance
228
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473178.
original residue
L
variation residue
P
position
928
score
100.0
distance
64.95655
seq distance
228
chain
A
In LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve; dbSNP:rs199473311.
original residue
I
variation residue
V
position
1768
score
100.0
distance
65.12786
seq distance
1068
chain
A
In LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve; dbSNP:rs199473311.
original residue
I
variation residue
V
position
1768
score
100.0
distance
65.12786
seq distance
1068
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473560.
original residue
V
variation residue
L
position
223
score
100.0
distance
65.4426
seq distance
476
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473560.
original residue
V
variation residue
L
position
223
score
100.0
distance
65.4426
seq distance
476
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473611.
original residue
G
variation residue
R
position
1420
score
100.0
distance
65.54895
seq distance
720
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473611.
original residue
G
variation residue
R
position
1420
score
100.0
distance
65.54895
seq distance
720
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473065.
original residue
A
variation residue
G
position
178
score
100.0
distance
65.57095
seq distance
521
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473065.
original residue
A
variation residue
G
position
178
score
100.0
distance
65.57095
seq distance
521
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473242.
original residue
K
variation residue
E
position
1419
score
100.0
distance
65.66374
seq distance
719
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473242.
original residue
K
variation residue
E
position
1419
score
100.0
distance
65.66374
seq distance
719
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473109.
original residue
L
variation residue
V
position
409
score
100.0
distance
65.70372
seq distance
290
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473109.
original residue
L
variation residue
V
position
409
score
100.0
distance
65.70372
seq distance
290
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473058.
original residue
R
variation residue
Q
position
121
score
72.72727272727273
distance
65.81772
seq distance
578
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473556.
original residue
R
variation residue
W
position
121
score
72.72727272727273
distance
65.81772
seq distance
578
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473058.
original residue
R
variation residue
Q
position
121
score
72.72727272727273
distance
65.81772
seq distance
578
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473556.
original residue
R
variation residue
W
position
121
score
72.72727272727273
distance
65.81772
seq distance
578
chain
A
In LQT3; dbSNP:rs199473077.
original residue
Q
variation residue
K
position
245
score
100.0
distance
66.07978
seq distance
454
chain
A
In LQT3; dbSNP:rs199473077.
original residue
Q
variation residue
K
position
245
score
100.0
distance
66.07978
seq distance
454
chain
A
In LQT3; dbSNP:rs28937317.
original residue
N
variation residue
S
position
1325
score
100.0
distance
66.191475
seq distance
625
chain
A
In LQT3; dbSNP:rs28937317.
original residue
N
variation residue
S
position
1325
score
100.0
distance
66.191475
seq distance
625
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473632.
original residue
Y
variation residue
C
position
1767
score
100.0
distance
66.577805
seq distance
1067
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473632.
original residue
Y
variation residue
C
position
1767
score
100.0
distance
66.577805
seq distance
1067
chain
A
In LQT3; dbSNP:rs199473257.
original residue
G
variation residue
E
position
1481
score
100.0
distance
67.11292
seq distance
781
chain
A
In LQT3; dbSNP:rs199473257.
original residue
G
variation residue
E
position
1481
score
100.0
distance
67.11292
seq distance
781
chain
A
In BRGDA1 and LQT3; dbSNP:rs45546039.
original residue
R
variation residue
Q
position
222
score
100.0
distance
67.35632
seq distance
477
chain
A
In BRGDA1 and LQT3; dbSNP:rs45546039.
original residue
R
variation residue
Q
position
222
score
100.0
distance
67.35632
seq distance
477
chain
A
In LQT3; dbSNP:rs199473631.
original residue
V
variation residue
M
position
1763
score
100.0
distance
67.39369
seq distance
1063
chain
A
In LQT3; dbSNP:rs199473631.
original residue
V
variation residue
M
position
1763
score
100.0
distance
67.39369
seq distance
1063
chain
A
In BRGDA1; dbSNP:rs199473168.
original residue
R
variation residue
C
position
878
score
100.0
distance
67.59286
seq distance
178
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473587.
original residue
R
variation residue
H
position
878
score
100.0
distance
67.59286
seq distance
178
chain
A
In BRGDA1; dbSNP:rs199473168.
original residue
R
variation residue
C
position
878
score
100.0
distance
67.59286
seq distance
178
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473587.
original residue
R
variation residue
H
position
878
score
100.0
distance
67.59286
seq distance
178
chain
A
In LQT3; dbSNP:rs72549410.
original residue
V
variation residue
M
position
411
score
100.0
distance
67.88792
seq distance
288
chain
A
In LQT3; dbSNP:rs72549410.
original residue
V
variation residue
M
position
411
score
100.0
distance
67.88792
seq distance
288
chain
A
In BRGDA1; strong decrease of current density; does not affect ion selectivity properties; dbSNP:rs199473628.
original residue
D
variation residue
G
position
1714
score
100.0
distance
68.06426
seq distance
1014
chain
A
In BRGDA1; strong decrease of current density; does not affect ion selectivity properties; dbSNP:rs199473628.
original residue
D
variation residue
G
position
1714
score
100.0
distance
68.06426
seq distance
1014
chain
A
In VF1; dbSNP:rs137854604.
original residue
S
variation residue
L
position
1710
score
100.0
distance
68.47158
seq distance
1010
chain
A
In VF1; dbSNP:rs137854604.
original residue
S
variation residue
L
position
1710
score
100.0
distance
68.47158
seq distance
1010
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473078.
original residue
V
variation residue
L
position
247
score
100.0
distance
68.48471
seq distance
452
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473078.
original residue
V
variation residue
L
position
247
score
100.0
distance
68.48471
seq distance
452
chain
A
In LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation; dbSNP:rs794728898.
original residue
H
variation residue
R
position
880
score
50.0
distance
68.54333
seq distance
180
chain
A
In LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation; dbSNP:rs794728898.
original residue
H
variation residue
R
position
880
score
50.0
distance
68.54333
seq distance
180
chain
A
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; changed voltage dependence for activation and inactivation.
original residue
G
variation residue
D
position
1748
score
100.0
distance
68.73358
seq distance
1048
chain
A
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; changed voltage dependence for activation and inactivation.
original residue
G
variation residue
D
position
1748
score
100.0
distance
68.73358
seq distance
1048
chain
A
In LQT3; dbSNP:rs199473108.
original residue
N
variation residue
K
position
406
score
100.0
distance
68.76459
seq distance
293
chain
A
In BRGDA1; dbSNP:rs199473568.
original residue
N
variation residue
S
position
406
score
100.0
distance
68.76459
seq distance
293
chain
A
In LQT3; dbSNP:rs199473108.
original residue
N
variation residue
K
position
406
score
100.0
distance
68.76459
seq distance
293
chain
A
In BRGDA1; dbSNP:rs199473568.
original residue
N
variation residue
S
position
406
score
100.0
distance
68.76459
seq distance
293
chain
A
In LQT3; affects protein trafficking; dbSNP:rs199473310.
original residue
M
variation residue
L
position
1766
score
100.0
distance
68.767006
seq distance
1066
chain
A
In LQT3; affects protein trafficking; dbSNP:rs199473310.
original residue
M
variation residue
L
position
1766
score
100.0
distance
68.767006
seq distance
1066
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473237.
original residue
C
variation residue
Y
position
1363
score
100.0
distance
69.02211
seq distance
663
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473237.
original residue
C
variation residue
Y
position
1363
score
100.0
distance
69.02211
seq distance
663
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473221.
original residue
V
variation residue
G
position
1323
score
100.0
distance
69.327484
seq distance
623
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473221.
original residue
V
variation residue
G
position
1323
score
100.0
distance
69.327484
seq distance
623
chain
A
In dbSNP:rs199473177.
original residue
V
variation residue
I
position
924
score
100.0
distance
69.40557
seq distance
224
chain
A
In dbSNP:rs199473177.
original residue
V
variation residue
I
position
924
score
100.0
distance
69.40557
seq distance
224
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473056.
original residue
N
variation residue
K
position
1269
score
54.54545454545454
distance
69.86515
seq distance
569
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473056.
original residue
N
variation residue
K
position
1269
score
54.54545454545454
distance
69.86515
seq distance
569
chain
A
In BRGDA1; loss of function; dbSNP:rs199473558.
original residue
T
variation residue
I
position
187
score
100.0
distance
70.08878
seq distance
512
chain
A
In BRGDA1; loss of function; dbSNP:rs199473558.
original residue
T
variation residue
I
position
187
score
100.0
distance
70.08878
seq distance
512
chain
A
In SSS1 and BRGDA1; dbSNP:rs45620037.
original residue
T
variation residue
I
position
220
score
100.0
distance
70.391495
seq distance
479
chain
A
In SSS1 and BRGDA1; dbSNP:rs45620037.
original residue
T
variation residue
I
position
220
score
100.0
distance
70.391495
seq distance
479
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473052.
original residue
F
variation residue
S
position
221
score
50.0
distance
70.44895
seq distance
478
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473052.
original residue
F
variation residue
S
position
221
score
50.0
distance
70.44895
seq distance
478
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473634.
original residue
T
variation residue
M
position
1779
score
72.72727272727273
distance
70.51182
seq distance
1079
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473634.
original residue
T
variation residue
M
position
1779
score
72.72727272727273
distance
70.51182
seq distance
1079
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473559.
original residue
A
variation residue
V
position
204
score
100.0
distance
70.518814
seq distance
495
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473559.
original residue
A
variation residue
V
position
204
score
100.0
distance
70.518814
seq distance
495
chain
A
In LQT3; dbSNP:rs199473615.
original residue
F
variation residue
L
position
1486
score
100.0
distance
70.56689
seq distance
786
chain
A
In LQT3; dbSNP:rs199473615.
original residue
F
variation residue
L
position
1486
score
100.0
distance
70.56689
seq distance
786
chain
A
Phosphoserine
position
1744
score
50.0
distance
70.64727
seq distance
1044
chain
A
Phosphoserine
position
1744
score
50.0
distance
70.64727
seq distance
1044
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
M
position
1709
score
100.0
distance
70.76991
seq distance
1009
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
R
position
1709
score
100.0
distance
70.76991
seq distance
1009
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
M
position
1709
score
100.0
distance
70.76991
seq distance
1009
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
R
position
1709
score
100.0
distance
70.76991
seq distance
1009
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473601.
original residue
W
variation residue
C
position
1271
score
100.0
distance
71.078445
seq distance
571
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473601.
original residue
W
variation residue
C
position
1271
score
100.0
distance
71.078445
seq distance
571
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473298.
original residue
G
variation residue
S
position
1712
score
100.0
distance
71.35859
seq distance
1012
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473298.
original residue
G
variation residue
S
position
1712
score
100.0
distance
71.35859
seq distance
1012
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473299.
original residue
N
variation residue
D
position
1722
score
100.0
distance
71.39927
seq distance
1022
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473299.
original residue
N
variation residue
D
position
1722
score
100.0
distance
71.39927
seq distance
1022
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473300.
original residue
T
variation residue
N
position
1723
score
100.0
distance
71.78245
seq distance
1023
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473300.
original residue
T
variation residue
N
position
1723
score
100.0
distance
71.78245
seq distance
1023
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473099.
original residue
T
variation residue
M
position
370
score
100.0
distance
72.46713
seq distance
329
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473099.
original residue
T
variation residue
M
position
370
score
100.0
distance
72.46713
seq distance
329
chain
A
In BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane; dbSNP:rs199473625.
original residue
I
variation residue
V
position
1660
score
100.0
distance
72.92771
seq distance
960
chain
A
In BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane; dbSNP:rs199473625.
original residue
I
variation residue
V
position
1660
score
100.0
distance
72.92771
seq distance
960
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473293.
original residue
V
variation residue
I
position
1667
score
100.0
distance
73.26268
seq distance
967
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473293.
original residue
V
variation residue
I
position
1667
score
100.0
distance
73.26268
seq distance
967
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473174.
original residue
E
variation residue
K
position
901
score
100.0
distance
73.43018
seq distance
201
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473174.
original residue
E
variation residue
K
position
901
score
100.0
distance
73.43018
seq distance
201
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473258.
original residue
M
variation residue
L
position
1487
score
100.0
distance
73.62087
seq distance
787
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473258.
original residue
M
variation residue
L
position
1487
score
100.0
distance
73.62087
seq distance
787
chain
A
In LQT3; dbSNP:rs199473107.
original residue
L
variation residue
Q
position
404
score
100.0
distance
73.69737
seq distance
295
chain
A
In LQT3; dbSNP:rs199473107.
original residue
L
variation residue
Q
position
404
score
100.0
distance
73.69737
seq distance
295
chain
A
In LQT3; dbSNP:rs199473314.
original residue
V
variation residue
M
position
1777
score
90.9090909090909
distance
73.88977
seq distance
1077
chain
A
In LQT3; dbSNP:rs199473314.
original residue
V
variation residue
M
position
1777
score
90.9090909090909
distance
73.88977
seq distance
1077
chain
A
In BRGDA1; dbSNP:rs199473629.
original residue
G
variation residue
E
position
1743
score
100.0
distance
74.02292
seq distance
1043
chain
A
In BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells; dbSNP:rs199473305.
original residue
G
variation residue
R
position
1743
score
100.0
distance
74.02292
seq distance
1043
chain
A
In BRGDA1; dbSNP:rs199473629.
original residue
G
variation residue
E
position
1743
score
100.0
distance
74.02292
seq distance
1043
chain
A
In BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells; dbSNP:rs199473305.
original residue
G
variation residue
R
position
1743
score
100.0
distance
74.02292
seq distance
1043
chain
A
In SSS1; dbSNP:rs28937319.
original residue
P
variation residue
L
position
1298
score
100.0
distance
74.61206
seq distance
598
chain
A
In SSS1; dbSNP:rs28937319.
original residue
P
variation residue
L
position
1298
score
100.0
distance
74.61206
seq distance
598
chain
A
In CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials; dbSNP:rs137854618.
original residue
D
variation residue
N
position
1275
score
100.0
distance
74.94558
seq distance
575
chain
A
In CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials; dbSNP:rs137854618.
original residue
D
variation residue
N
position
1275
score
100.0
distance
74.94558
seq distance
575
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473219.
original residue
L
variation residue
P
position
1311
score
100.0
distance
74.96543
seq distance
611
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473219.
original residue
L
variation residue
P
position
1311
score
100.0
distance
74.96543
seq distance
611
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473067.
original residue
A
variation residue
V
position
185
score
100.0
distance
75.06663
seq distance
514
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473067.
original residue
A
variation residue
V
position
185
score
100.0
distance
75.06663
seq distance
514
chain
A
Associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031.
original residue
L
variation residue
F
position
1308
score
100.0
distance
75.30127
seq distance
608
chain
A
Associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031.
original residue
L
variation residue
F
position
1308
score
100.0
distance
75.30127
seq distance
608
chain
A
In BRGDA1; dbSNP:rs199473220.
original residue
G
variation residue
V
position
1319
score
100.0
distance
75.41273
seq distance
619
chain
A
In BRGDA1; dbSNP:rs199473220.
original residue
G
variation residue
V
position
1319
score
100.0
distance
75.41273
seq distance
619
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473259.
original residue
T
variation residue
R
position
1488
score
100.0
distance
75.629036
seq distance
788
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473259.
original residue
T
variation residue
R
position
1488
score
100.0
distance
75.629036
seq distance
788
chain
A
In LQT3; dbSNP:rs199473321.
original residue
D
variation residue
G
position
1280
score
50.0
distance
75.70697
seq distance
580
chain
A
In LQT3; dbSNP:rs199473321.
original residue
D
variation residue
G
position
1280
score
50.0
distance
75.70697
seq distance
580
chain
A
In BRGDA1; dbSNP:rs199473098.
original residue
M
variation residue
K
position
369
score
100.0
distance
75.778694
seq distance
330
chain
A
In BRGDA1; dbSNP:rs199473098.
original residue
M
variation residue
K
position
369
score
100.0
distance
75.778694
seq distance
330
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473292.
original residue
G
variation residue
R
position
1661
score
100.0
distance
75.86916
seq distance
961
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473292.
original residue
G
variation residue
R
position
1661
score
100.0
distance
75.86916
seq distance
961
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473176.
original residue
L
variation residue
R
position
917
score
100.0
distance
76.03381
seq distance
217
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473176.
original residue
L
variation residue
R
position
917
score
100.0
distance
76.03381
seq distance
217
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473566.
original residue
W
variation residue
G
position
374
score
100.0
distance
76.10457
seq distance
325
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473566.
original residue
W
variation residue
G
position
374
score
100.0
distance
76.10457
seq distance
325
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473588.
original residue
C
variation residue
R
position
915
score
100.0
distance
76.25921
seq distance
215
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473588.
original residue
C
variation residue
R
position
915
score
100.0
distance
76.25921
seq distance
215
chain
A
In BRGDA1; dbSNP:rs199473289.
original residue
A
variation residue
V
position
1649
score
100.0
distance
76.27158
seq distance
949
chain
A
In LQT3; dbSNP:rs199473330.
original residue
A
variation residue
S
position
1649
score
54.54545454545454
distance
76.27158
seq distance
949
chain
A
In BRGDA1; dbSNP:rs199473289.
original residue
A
variation residue
V
position
1649
score
100.0
distance
76.27158
seq distance
949
chain
A
In LQT3; dbSNP:rs199473330.
original residue
A
variation residue
S
position
1649
score
54.54545454545454
distance
76.27158
seq distance
949
chain
A
In BRGDA1 and LQT3; express no current; dbSNP:rs199473097.
original residue
R
variation residue
C
position
367
score
100.0
distance
76.4708
seq distance
332
chain
A
In BRGDA1; express no current; dbSNP:rs28937318.
original residue
R
variation residue
H
position
367
score
100.0
distance
76.4708
seq distance
332
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs28937318.
original residue
R
variation residue
L
position
367
score
100.0
distance
76.4708
seq distance
332
chain
A
In BRGDA1 and LQT3; express no current; dbSNP:rs199473097.
original residue
R
variation residue
C
position
367
score
100.0
distance
76.4708
seq distance
332
chain
A
In BRGDA1; express no current; dbSNP:rs28937318.
original residue
R
variation residue
H
position
367
score
100.0
distance
76.4708
seq distance
332
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs28937318.
original residue
R
variation residue
L
position
367
score
100.0
distance
76.4708
seq distance
332
chain
A
Rare variant found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41276525.
original residue
S
variation residue
L
position
216
score
100.0
distance
76.654564
seq distance
483
chain
A
Rare variant found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41276525.
original residue
S
variation residue
L
position
216
score
100.0
distance
76.654564
seq distance
483
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473066.
original residue
C
variation residue
R
position
182
score
100.0
distance
76.66092
seq distance
517
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473066.
original residue
C
variation residue
R
position
182
score
100.0
distance
76.66092
seq distance
517
chain
A
In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation; dbSNP:rs199473627.
original residue
F
variation residue
S
position
1705
score
100.0
distance
76.89067
seq distance
1005
chain
A
In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation; dbSNP:rs199473627.
original residue
F
variation residue
S
position
1705
score
100.0
distance
76.89067
seq distance
1005
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473616.
original residue
E
variation residue
D
position
1489
score
100.0
distance
76.90443
seq distance
789
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473616.
original residue
E
variation residue
D
position
1489
score
100.0
distance
76.90443
seq distance
789
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473302.
original residue
C
variation residue
R
position
1728
score
100.0
distance
76.93449
seq distance
1028
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs193922726.
original residue
C
variation residue
W
position
1728
score
100.0
distance
76.93449
seq distance
1028
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473302.
original residue
C
variation residue
R
position
1728
score
100.0
distance
76.93449
seq distance
1028
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs193922726.
original residue
C
variation residue
W
position
1728
score
100.0
distance
76.93449
seq distance
1028
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473105.
original residue
I
variation residue
T
position
397
score
100.0
distance
77.15993
seq distance
302
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473105.
original residue
I
variation residue
T
position
397
score
100.0
distance
77.15993
seq distance
302
chain
A
In LQT3; dbSNP:rs199473603.
original residue
T
variation residue
M
position
1304
score
100.0
distance
77.345184
seq distance
604
chain
A
In LQT3; dbSNP:rs199473603.
original residue
T
variation residue
M
position
1304
score
100.0
distance
77.345184
seq distance
604
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs137854616.
original residue
G
variation residue
S
position
1262
score
100.0
distance
77.367
seq distance
562
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs137854616.
original residue
G
variation residue
S
position
1262
score
100.0
distance
77.367
seq distance
562
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473167.
original residue
E
variation residue
Q
position
867
score
100.0
distance
77.39904
seq distance
167
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473167.
original residue
E
variation residue
Q
position
867
score
100.0
distance
77.39904
seq distance
167
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473290.
original residue
L
variation residue
F
position
1650
score
100.0
distance
77.51585
seq distance
950
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473290.
original residue
L
variation residue
F
position
1650
score
100.0
distance
77.51585
seq distance
950
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473626.
original residue
S
variation residue
Y
position
1672
score
100.0
distance
77.69052
seq distance
972
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473626.
original residue
S
variation residue
Y
position
1672
score
100.0
distance
77.69052
seq distance
972
chain
A
In dbSNP:rs199473100.
original residue
R
variation residue
C
position
376
score
100.0
distance
78.33225
seq distance
323
chain
A
In BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation; dbSNP:rs199473101.
original residue
R
variation residue
H
position
376
score
100.0
distance
78.33225
seq distance
323
chain
A
In dbSNP:rs199473100.
original residue
R
variation residue
C
position
376
score
100.0
distance
78.33225
seq distance
323
chain
A
In BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation; dbSNP:rs199473101.
original residue
R
variation residue
H
position
376
score
100.0
distance
78.33225
seq distance
323
chain
A
In LQT3; dbSNP:rs199473291.
original residue
M
variation residue
R
position
1652
score
100.0
distance
78.374794
seq distance
952
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473291.
original residue
M
variation residue
T
position
1652
score
100.0
distance
78.374794
seq distance
952
chain
A
In LQT3; dbSNP:rs199473291.
original residue
M
variation residue
R
position
1652
score
100.0
distance
78.374794
seq distance
952
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473291.
original residue
M
variation residue
T
position
1652
score
100.0
distance
78.374794
seq distance
952
chain
A
In dbSNP:rs199473191.
original residue
V
variation residue
L
position
1284
score
50.0
distance
78.790665
seq distance
584
chain
A
In dbSNP:rs199473191.
original residue
V
variation residue
L
position
1284
score
50.0
distance
78.790665
seq distance
584
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473262.
original residue
Y
variation residue
S
position
1495
score
100.0
distance
78.882996
seq distance
795
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473262.
original residue
Y
variation residue
S
position
1495
score
100.0
distance
78.882996
seq distance
795
chain
A
In BRGDA1; dbSNP:rs199473175.
original residue
S
variation residue
L
position
910
score
100.0
distance
78.90375
seq distance
210
chain
A
In BRGDA1; dbSNP:rs199473175.
original residue
S
variation residue
L
position
910
score
100.0
distance
78.90375
seq distance
210
chain
A
In LQT3; dbSNP:rs199473288.
original residue
T
variation residue
M
position
1645
score
100.0
distance
79.2171
seq distance
945
chain
A
In LQT3; dbSNP:rs199473288.
original residue
T
variation residue
M
position
1645
score
100.0
distance
79.2171
seq distance
945
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473624.
original residue
G
variation residue
E
position
1642
score
100.0
distance
79.57819
seq distance
942
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473624.
original residue
G
variation residue
E
position
1642
score
100.0
distance
79.57819
seq distance
942
chain
A
In BRGDA1; dbSNP:rs199473304.
original residue
G
variation residue
R
position
1740
score
100.0
distance
79.8054
seq distance
1040
chain
A
In BRGDA1; dbSNP:rs199473304.
original residue
G
variation residue
R
position
1740
score
100.0
distance
79.8054
seq distance
1040
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473260.
original residue
K
variation residue
R
position
1493
score
100.0
distance
80.06547
seq distance
793
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473260.
original residue
K
variation residue
R
position
1493
score
100.0
distance
80.06547
seq distance
793
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473091.
original residue
T
variation residue
N
position
320
score
100.0
distance
80.16442
seq distance
379
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473091.
original residue
T
variation residue
N
position
320
score
100.0
distance
80.16442
seq distance
379
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473294.
original residue
A
variation residue
T
position
1680
score
100.0
distance
80.497086
seq distance
980
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473294.
original residue
A
variation residue
T
position
1680
score
100.0
distance
80.497086
seq distance
980
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473216.
original residue
L
variation residue
M
position
1283
score
100.0
distance
80.52999
seq distance
583
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473216.
original residue
L
variation residue
M
position
1283
score
100.0
distance
80.52999
seq distance
583
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473103.
original residue
V
variation residue
A
position
396
score
100.0
distance
80.535324
seq distance
303
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473104.
original residue
V
variation residue
L
position
396
score
100.0
distance
80.535324
seq distance
303
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473103.
original residue
V
variation residue
A
position
396
score
100.0
distance
80.535324
seq distance
303
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473104.
original residue
V
variation residue
L
position
396
score
100.0
distance
80.535324
seq distance
303
chain
A
In LQT3; dbSNP:rs199473043.
original residue
G
variation residue
V
position
319
score
50.0
distance
80.567406
seq distance
380
chain
A
In BRGDA1; dbSNP:rs199473090.
original residue
G
variation residue
S
position
319
score
100.0
distance
80.567406
seq distance
380
chain
A
In LQT3; dbSNP:rs199473043.
original residue
G
variation residue
V
position
319
score
50.0
distance
80.567406
seq distance
380
chain
A
In BRGDA1; dbSNP:rs199473090.
original residue
G
variation residue
S
position
319
score
100.0
distance
80.567406
seq distance
380
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473303.
original residue
R
variation residue
W
position
1739
score
100.0
distance
81.61506
seq distance
1039
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473303.
original residue
R
variation residue
W
position
1739
score
100.0
distance
81.61506
seq distance
1039
chain
A
In BRGDA1; dbSNP:rs199473261.
original residue
Y
variation residue
N
position
1494
score
100.0
distance
81.790436
seq distance
794
chain
A
In BRGDA1; dbSNP:rs199473261.
original residue
Y
variation residue
N
position
1494
score
100.0
distance
81.790436
seq distance
794
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473217.
original residue
A
variation residue
G
position
1288
score
100.0
distance
81.90175
seq distance
588
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473217.
original residue
A
variation residue
G
position
1288
score
100.0
distance
81.90175
seq distance
588
chain
A
In BRGDA1.
original residue
variation residue
position
393
score
100.0
distance
82.28797
seq distance
306
chain
A
In BRGDA1.
original residue
variation residue
position
393
score
100.0
distance
82.28797
seq distance
306
chain
A
Found in a patient with long QT syndrome; unknown pathological significance; dbSNP:rs199473263.
original residue
M
variation residue
T
position
1498
score
100.0
distance
82.34207
seq distance
798
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473264.
original residue
M
variation residue
V
position
1498
score
100.0
distance
82.34207
seq distance
798
chain
A
Found in a patient with long QT syndrome; unknown pathological significance; dbSNP:rs199473263.
original residue
M
variation residue
T
position
1498
score
100.0
distance
82.34207
seq distance
798
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473264.
original residue
M
variation residue
V
position
1498
score
100.0
distance
82.34207
seq distance
798
chain
A
In LQT3; dbSNP:rs199473287.
original residue
R
variation residue
C
position
1644
score
100.0
distance
82.63289
seq distance
944
chain
A
In LQT3; dbSNP:rs28937316.
original residue
R
variation residue
H
position
1644
score
100.0
distance
82.63289
seq distance
944
chain
A
In LQT3; dbSNP:rs199473287.
original residue
R
variation residue
C
position
1644
score
100.0
distance
82.63289
seq distance
944
chain
A
In LQT3; dbSNP:rs28937316.
original residue
R
variation residue
H
position
1644
score
100.0
distance
82.63289
seq distance
944
chain
A
In dbSNP:rs199473265.
original residue
K
variation residue
N
position
1500
score
100.0
distance
82.82584
seq distance
800
chain
A
In BRGDA1.
original residue
variation residue
position
1500
score
100.0
distance
82.82584
seq distance
800
chain
A
In dbSNP:rs199473265.
original residue
K
variation residue
N
position
1500
score
100.0
distance
82.82584
seq distance
800
chain
A
In BRGDA1.
original residue
variation residue
position
1500
score
100.0
distance
82.82584
seq distance
800
chain
A
In LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation; dbSNP:rs199473218.
original residue
E
variation residue
K
position
1295
score
100.0
distance
82.964066
seq distance
595
chain
A
In LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation; dbSNP:rs199473218.
original residue
E
variation residue
K
position
1295
score
100.0
distance
82.964066
seq distance
595
chain
A
In dbSNP:rs199473600.
original residue
V
variation residue
M
position
1251
score
100.0
distance
83.122154
seq distance
551
chain
A
In dbSNP:rs199473600.
original residue
V
variation residue
M
position
1251
score
100.0
distance
83.122154
seq distance
551
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473597.
original residue
S
variation residue
N
position
1219
score
100.0
distance
83.23667
seq distance
519
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473597.
original residue
S
variation residue
N
position
1219
score
100.0
distance
83.23667
seq distance
519
chain
A
In BRGDA1; dbSNP:rs199473267.
original residue
G
variation residue
S
position
1502
score
100.0
distance
83.29377
seq distance
802
chain
A
In BRGDA1; dbSNP:rs199473267.
original residue
G
variation residue
S
position
1502
score
100.0
distance
83.29377
seq distance
802
chain
A
Phosphoserine; by PKC
position
1503
score
100.0
distance
83.4439
seq distance
803
chain
A
Phosphoserine; by PKC
position
1503
score
100.0
distance
83.4439
seq distance
803
chain
A
In LQT3; drug-induced LQT syndrome; dbSNP:rs45589741.
original residue
F
variation residue
L
position
1250
score
100.0
distance
83.811844
seq distance
550
chain
A
In LQT3; drug-induced LQT syndrome; dbSNP:rs45589741.
original residue
F
variation residue
L
position
1250
score
100.0
distance
83.811844
seq distance
550
chain
A
In BRGDA1; dbSNP:rs199473096.
original residue
T
variation residue
I
position
353
score
100.0
distance
84.09641
seq distance
346
chain
A
In BRGDA1; dbSNP:rs199473096.
original residue
T
variation residue
I
position
353
score
100.0
distance
84.09641
seq distance
346
chain
A
In dbSNP:rs41313697.
original residue
L
variation residue
V
position
1286
score
54.54545454545454
distance
84.22338
seq distance
586
chain
A
In dbSNP:rs41313697.
original residue
L
variation residue
V
position
1286
score
54.54545454545454
distance
84.22338
seq distance
586
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473214.
original residue
E
variation residue
G
position
1253
score
100.0
distance
84.26461
seq distance
553
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473214.
original residue
E
variation residue
G
position
1253
score
100.0
distance
84.26461
seq distance
553
chain
A
In LQT3; dbSNP:rs199473070.
original residue
L
variation residue
P
position
212
score
100.0
distance
84.63396
seq distance
487
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473070.
original residue
L
variation residue
Q
position
212
score
100.0
distance
84.63396
seq distance
487
chain
A
In LQT3; dbSNP:rs199473070.
original residue
L
variation residue
P
position
212
score
100.0
distance
84.63396
seq distance
487
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473070.
original residue
L
variation residue
Q
position
212
score
100.0
distance
84.63396
seq distance
487
chain
A
In LQT3; unknown pathological significance; dbSNP:rs794728920.
original residue
variation residue
position
1212
score
100.0
distance
84.8786
seq distance
512
chain
A
In LQT3; unknown pathological significance; dbSNP:rs794728920.
original residue
variation residue
position
1212
score
100.0
distance
84.8786
seq distance
512
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473266.
original residue
L
variation residue
V
position
1501
score
100.0
distance
85.0638
seq distance
801
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473266.
original residue
L
variation residue
V
position
1501
score
100.0
distance
85.0638
seq distance
801
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473295.
original residue
A
variation residue
T
position
1698
score
100.0
distance
85.418785
seq distance
998
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473295.
original residue
A
variation residue
T
position
1698
score
100.0
distance
85.418785
seq distance
998
chain
A
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; no effect on voltage dependence for activation and inactivation; dbSNP:rs1060499900.
original residue
D
variation residue
N
position
1690
score
100.0
distance
85.42123
seq distance
990
chain
A
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; no effect on voltage dependence for activation and inactivation; dbSNP:rs1060499900.
original residue
D
variation residue
N
position
1690
score
100.0
distance
85.42123
seq distance
990
chain
A
May confer susceptibility to acquired arrhythmia; dbSNP:rs7626962.
original residue
S
variation residue
Y
position
1218
score
50.0
distance
85.52932
seq distance
518
chain
A
May confer susceptibility to acquired arrhythmia; dbSNP:rs7626962.
original residue
S
variation residue
Y
position
1218
score
50.0
distance
85.52932
seq distance
518
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473202.
original residue
Y
variation residue
S
position
1199
score
100.0
distance
85.583595
seq distance
499
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473202.
original residue
Y
variation residue
S
position
1199
score
100.0
distance
85.583595
seq distance
499
chain
A
In LQT3.
original residue
variation residue
begin
1505
end
1507
score
100.0
distance
85.9802
seq distance
805
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473268.
original residue
K
variation residue
N
position
1505
score
100.0
distance
85.9802
seq distance
805
chain
A
In LQT3.
original residue
variation residue
begin
1505
end
1507
score
100.0
distance
85.9802
seq distance
805
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473268.
original residue
K
variation residue
N
position
1505
score
100.0
distance
85.9802
seq distance
805
chain
A
In dbSNP:rs199473125.
original residue
R
variation residue
H
position
1195
score
50.0
distance
86.035095
seq distance
495
chain
A
In dbSNP:rs199473125.
original residue
R
variation residue
H
position
1195
score
50.0
distance
86.035095
seq distance
495
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473095.
original residue
G
variation residue
D
position
351
score
100.0
distance
86.06146
seq distance
348
chain
A
In BRGDA1; 7-fold current reduction; dbSNP:rs199473095.
original residue
G
variation residue
V
position
351
score
100.0
distance
86.06146
seq distance
348
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473095.
original residue
G
variation residue
D
position
351
score
100.0
distance
86.06146
seq distance
348
chain
A
In BRGDA1; 7-fold current reduction; dbSNP:rs199473095.
original residue
G
variation residue
V
position
351
score
100.0
distance
86.06146
seq distance
348
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473204.
original residue
E
variation residue
K
position
1225
score
100.0
distance
86.28041
seq distance
525
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473204.
original residue
E
variation residue
K
position
1225
score
100.0
distance
86.28041
seq distance
525
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs41311127.
original residue
F
variation residue
S
position
1293
score
100.0
distance
86.35648
seq distance
593
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs41311127.
original residue
F
variation residue
S
position
1293
score
100.0
distance
86.35648
seq distance
593
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473213.
original residue
V
variation residue
D
position
1249
score
100.0
distance
87.60984
seq distance
549
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473213.
original residue
V
variation residue
D
position
1249
score
100.0
distance
87.60984
seq distance
549
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473599.
original residue
D
variation residue
N
position
1243
score
100.0
distance
87.78083
seq distance
543
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473599.
original residue
D
variation residue
N
position
1243
score
100.0
distance
87.78083
seq distance
543
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473092.
original residue
L
variation residue
R
position
325
score
100.0
distance
89.60408
seq distance
374
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473092.
original residue
L
variation residue
R
position
325
score
100.0
distance
89.60408
seq distance
374
chain
A
In BRGDA1; dbSNP:rs199473124.
original residue
L
variation residue
Q
position
1194
score
50.0
distance
89.66339
seq distance
494
chain
A
In BRGDA1; dbSNP:rs199473124.
original residue
L
variation residue
Q
position
1194
score
50.0
distance
89.66339
seq distance
494
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473081.
original residue
L
variation residue
Q
position
276
score
100.0
distance
89.74192
seq distance
423
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473081.
original residue
L
variation residue
Q
position
276
score
100.0
distance
89.74192
seq distance
423
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
G
position
1193
score
50.0
distance
89.992645
seq distance
493
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473554.
original residue
R
variation residue
Q
position
1193
score
50.0
distance
89.992645
seq distance
493
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
W
position
1193
score
50.0
distance
89.992645
seq distance
493
chain
A
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344.
original residue
R
variation residue
Q
position
1193
score
100.0
distance
89.992645
seq distance
493
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
G
position
1193
score
50.0
distance
89.992645
seq distance
493
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473554.
original residue
R
variation residue
Q
position
1193
score
50.0
distance
89.992645
seq distance
493
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
W
position
1193
score
50.0
distance
89.992645
seq distance
493
chain
A
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344.
original residue
R
variation residue
Q
position
1193
score
100.0
distance
89.992645
seq distance
493
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473564.
original residue
L
variation residue
P
position
315
score
100.0
distance
90.81961
seq distance
384
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473564.
original residue
L
variation residue
P
position
315
score
100.0
distance
90.81961
seq distance
384
chain
A
In dbSNP:rs199473211.
original residue
E
variation residue
Q
position
1240
score
100.0
distance
90.95745
seq distance
540
chain
A
In dbSNP:rs199473211.
original residue
E
variation residue
Q
position
1240
score
100.0
distance
90.95745
seq distance
540
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473567.
original residue
G
variation residue
E
position
386
score
100.0
distance
91.25946
seq distance
313
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473102.
original residue
G
variation residue
R
position
386
score
100.0
distance
91.25946
seq distance
313
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473567.
original residue
G
variation residue
E
position
386
score
100.0
distance
91.25946
seq distance
313
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473102.
original residue
G
variation residue
R
position
386
score
100.0
distance
91.25946
seq distance
313
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473205.
original residue
Y
variation residue
H
position
1228
score
100.0
distance
91.5021
seq distance
528
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473205.
original residue
Y
variation residue
H
position
1228
score
100.0
distance
91.5021
seq distance
528
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473210.
original residue
L
variation residue
P
position
1239
score
100.0
distance
91.50328
seq distance
539
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473210.
original residue
L
variation residue
P
position
1239
score
100.0
distance
91.50328
seq distance
539
chain
A
In BRGDA1; loss of function; dbSNP:rs199473565.
original residue
D
variation residue
N
position
356
score
100.0
distance
91.82205
seq distance
343
chain
A
In BRGDA1; loss of function; dbSNP:rs199473565.
original residue
D
variation residue
N
position
356
score
100.0
distance
91.82205
seq distance
343
chain
A
In LQT3.
original residue
variation residue
begin
1507
end
1509
score
100.0
distance
91.86015
seq distance
807
chain
A
In LQT3.
original residue
variation residue
begin
1507
end
1509
score
100.0
distance
91.86015
seq distance
807
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473080.
original residue
N
variation residue
K
position
275
score
100.0
distance
92.63553
seq distance
424
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473080.
original residue
N
variation residue
K
position
275
score
100.0
distance
92.63553
seq distance
424
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473562.
original residue
H
variation residue
D
position
278
score
100.0
distance
93.600075
seq distance
421
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473562.
original residue
H
variation residue
D
position
278
score
100.0
distance
93.600075
seq distance
421
chain
A
In BRGDA1; dbSNP:rs199473208.
original residue
K
variation residue
N
position
1236
score
100.0
distance
93.71255
seq distance
536
chain
A
In BRGDA1; dbSNP:rs199473208.
original residue
K
variation residue
N
position
1236
score
100.0
distance
93.71255
seq distance
536
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473079.
original residue
Q
variation residue
K
position
270
score
100.0
distance
94.342476
seq distance
429
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473079.
original residue
Q
variation residue
K
position
270
score
100.0
distance
94.342476
seq distance
429
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473618.
original residue
V
variation residue
I
position
1532
score
100.0
distance
95.527405
seq distance
832
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473618.
original residue
V
variation residue
I
position
1532
score
100.0
distance
95.527405
seq distance
832
chain
A
In BRGDA1; severe reduction of sodium currents; dbSNP:rs199473093.
original residue
P
variation residue
L
position
336
score
100.0
distance
95.57057
seq distance
363
chain
A
In BRGDA1; severe reduction of sodium currents; dbSNP:rs199473093.
original residue
P
variation residue
L
position
336
score
100.0
distance
95.57057
seq distance
363
chain
A
In LQT3; dbSNP:rs199473598.
original residue
E
variation residue
K
position
1231
score
100.0
distance
95.62115
seq distance
531
chain
A
In LQT3; dbSNP:rs199473598.
original residue
E
variation residue
K
position
1231
score
100.0
distance
95.62115
seq distance
531
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473277.
original residue
F
variation residue
S
position
1594
score
100.0
distance
96.278625
seq distance
894
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473277.
original residue
F
variation residue
S
position
1594
score
100.0
distance
96.278625
seq distance
894
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473206.
original residue
R
variation residue
Q
position
1232
score
100.0
distance
96.7446
seq distance
532
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473207.
original residue
R
variation residue
W
position
1232
score
100.0
distance
96.7446
seq distance
532
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473206.
original residue
R
variation residue
Q
position
1232
score
100.0
distance
96.7446
seq distance
532
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473207.
original residue
R
variation residue
W
position
1232
score
100.0
distance
96.7446
seq distance
532
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473271.
original residue
E
variation residue
K
position
1548
score
100.0
distance
96.76411
seq distance
848
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473271.
original residue
E
variation residue
K
position
1548
score
100.0
distance
96.76411
seq distance
848
chain
A
In BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation; dbSNP:rs199473180.
original residue
R
variation residue
C
position
1629
score
59.09090909090909
distance
97.901146
seq distance
929
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
H
position
1629
score
59.09090909090909
distance
97.901146
seq distance
929
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
L
position
1629
score
59.09090909090909
distance
97.901146
seq distance
929
chain
A
In BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation; dbSNP:rs199473623.
original residue
R
variation residue
Q
position
1629
score
100.0
distance
97.901146
seq distance
929
chain
A
In BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation; dbSNP:rs199473180.
original residue
R
variation residue
C
position
1629
score
59.09090909090909
distance
97.901146
seq distance
929
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
H
position
1629
score
59.09090909090909
distance
97.901146
seq distance
929
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
L
position
1629
score
59.09090909090909
distance
97.901146
seq distance
929
chain
A
In BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation; dbSNP:rs199473623.
original residue
R
variation residue
Q
position
1629
score
100.0
distance
97.901146
seq distance
929
chain
A
In PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3; dbSNP:rs137854607.
original residue
D
variation residue
N
position
1595
score
100.0
distance
98.268074
seq distance
895
chain
A
In PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3; dbSNP:rs137854607.
original residue
D
variation residue
N
position
1595
score
100.0
distance
98.268074
seq distance
895
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473276.
original residue
I
variation residue
M
position
1593
score
100.0
distance
98.50787
seq distance
893
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473276.
original residue
I
variation residue
M
position
1593
score
100.0
distance
98.50787
seq distance
893
chain
A
In LQT3; dbSNP:rs137854600.
original residue
R
variation residue
L
position
1623
score
100.0
distance
99.1337
seq distance
923
chain
A
In LQT3 and BRGDA1; dbSNP:rs137854600.
original residue
R
variation residue
Q
position
1623
score
100.0
distance
99.1337
seq distance
923
chain
A
In LQT3; dbSNP:rs137854600.
original residue
R
variation residue
L
position
1623
score
100.0
distance
99.1337
seq distance
923
chain
A
In LQT3 and BRGDA1; dbSNP:rs137854600.
original residue
R
variation residue
Q
position
1623
score
100.0
distance
99.1337
seq distance
923
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473082.
original residue
R
variation residue
C
position
282
score
100.0
distance
99.1913
seq distance
417
chain
A
In BRGDA1; dbSNP:rs199473083.
original residue
R
variation residue
H
position
282
score
100.0
distance
99.1913
seq distance
417
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473082.
original residue
R
variation residue
C
position
282
score
100.0
distance
99.1913
seq distance
417
chain
A
In BRGDA1; dbSNP:rs199473083.
original residue
R
variation residue
H
position
282
score
100.0
distance
99.1913
seq distance
417
chain
A
In LQT3 and PFHB1A; dbSNP:rs199473282.
original residue
T
variation residue
K
position
1620
score
100.0
distance
99.20783
seq distance
920
chain
A
In BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range; dbSNP:rs199473282.
original residue
T
variation residue
M
position
1620
score
100.0
distance
99.20783
seq distance
920
chain
A
In LQT3 and PFHB1A; dbSNP:rs199473282.
original residue
T
variation residue
K
position
1620
score
100.0
distance
99.20783
seq distance
920
chain
A
In BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range; dbSNP:rs199473282.
original residue
T
variation residue
M
position
1620
score
100.0
distance
99.20783
seq distance
920
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473094.
original residue
R
variation residue
W
position
340
score
100.0
distance
99.75211
seq distance
359
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473094.
original residue
R
variation residue
W
position
340
score
100.0
distance
99.75211
seq distance
359
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
H
position
1626
score
100.0
distance
100.06751
seq distance
926
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
P
position
1626
score
100.0
distance
100.06751
seq distance
926
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
H
position
1626
score
100.0
distance
100.06751
seq distance
926
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
P
position
1626
score
100.0
distance
100.06751
seq distance
926
chain
A
In BRGDA1; asymptomatic patient; associated with P-1569; dbSNP:rs199473270.
original residue
K
variation residue
R
position
1527
score
100.0
distance
101.13144
seq distance
827
chain
A
In BRGDA1; asymptomatic patient; associated with P-1569; dbSNP:rs199473270.
original residue
K
variation residue
R
position
1527
score
100.0
distance
101.13144
seq distance
827
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473278.
original residue
F
variation residue
I
position
1596
score
100.0
distance
101.50699
seq distance
896
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473278.
original residue
F
variation residue
I
position
1596
score
100.0
distance
101.50699
seq distance
896
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473274.
original residue
F
variation residue
C
position
1571
score
100.0
distance
103.9162
seq distance
871
chain
A
In BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest; dbSNP:rs1369632373.
original residue
F
variation residue
L
position
1571
score
100.0
distance
103.9162
seq distance
871
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473274.
original residue
F
variation residue
C
position
1571
score
100.0
distance
103.9162
seq distance
871
chain
A
In BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest; dbSNP:rs1369632373.
original residue
F
variation residue
L
position
1571
score
100.0
distance
103.9162
seq distance
871
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473619.
original residue
L
variation residue
F
position
1560
score
100.0
distance
104.556
seq distance
860
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473619.
original residue
L
variation residue
F
position
1560
score
100.0
distance
104.556
seq distance
860
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473269.
original residue
V
variation residue
M
position
1525
score
100.0
distance
104.648605
seq distance
825
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473269.
original residue
V
variation residue
M
position
1525
score
100.0
distance
104.648605
seq distance
825
chain
A
In PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance; dbSNP:rs137854608.
original residue
G
variation residue
S
position
298
score
100.0
distance
105.19869
seq distance
401
chain
A
In PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance; dbSNP:rs137854608.
original residue
G
variation residue
S
position
298
score
100.0
distance
105.19869
seq distance
401
chain
A
In LQT3 and BRGDA1.
original residue
variation residue
position
1617
score
100.0
distance
105.35343
seq distance
917
chain
A
In LQT3 and BRGDA1.
original residue
variation residue
position
1617
score
100.0
distance
105.35343
seq distance
917
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473620.
original residue
E
variation residue
K
position
1574
score
100.0
distance
105.43022
seq distance
874
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473620.
original residue
E
variation residue
K
position
1574
score
100.0
distance
105.43022
seq distance
874
chain
A
In dbSNP:rs199473087.
original residue
L
variation residue
M
position
299
score
100.0
distance
105.45081
seq distance
400
chain
A
In dbSNP:rs199473087.
original residue
L
variation residue
M
position
299
score
100.0
distance
105.45081
seq distance
400
chain
A
In BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke; dbSNP:rs137854602.
original residue
R
variation residue
W
position
1512
score
100.0
distance
106.62362
seq distance
812
chain
A
In BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke; dbSNP:rs137854602.
original residue
R
variation residue
W
position
1512
score
100.0
distance
106.62362
seq distance
812
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473275.
original residue
L
variation residue
P
position
1582
score
100.0
distance
106.74403
seq distance
882
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473275.
original residue
L
variation residue
P
position
1582
score
100.0
distance
106.74403
seq distance
882
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473280.
original residue
V
variation residue
M
position
1604
score
100.0
distance
106.77455
seq distance
904
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473280.
original residue
V
variation residue
M
position
1604
score
100.0
distance
106.77455
seq distance
904
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473088.
original residue
V
variation residue
I
position
300
score
100.0
distance
107.3042
seq distance
399
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473088.
original residue
V
variation residue
I
position
300
score
100.0
distance
107.3042
seq distance
399
chain
A
In LQT3; dbSNP:rs199473622.
original residue
S
variation residue
W
position
1609
score
100.0
distance
107.851
seq distance
909
chain
A
In LQT3; dbSNP:rs199473622.
original residue
S
variation residue
W
position
1609
score
100.0
distance
107.851
seq distance
909
chain
A
In BRGDA1; asymptomatic patient; associated with R-1527; dbSNP:rs199473273.
original residue
A
variation residue
P
position
1569
score
100.0
distance
108.23399
seq distance
869
chain
A
In BRGDA1; asymptomatic patient; associated with R-1527; dbSNP:rs199473273.
original residue
A
variation residue
P
position
1569
score
100.0
distance
108.23399
seq distance
869
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs45514691.
original residue
R
variation residue
C
position
1583
score
100.0
distance
108.59521
seq distance
883
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473621.
original residue
R
variation residue
H
position
1583
score
100.0
distance
108.59521
seq distance
883
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs45514691.
original residue
R
variation residue
C
position
1583
score
100.0
distance
108.59521
seq distance
883
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473621.
original residue
R
variation residue
H
position
1583
score
100.0
distance
108.59521
seq distance
883
chain
A
In BRGDA1; dbSNP:rs199473086.
original residue
V
variation residue
M
position
294
score
100.0
distance
109.84658
seq distance
405
chain
A
In BRGDA1; dbSNP:rs199473086.
original residue
V
variation residue
M
position
294
score
100.0
distance
109.84658
seq distance
405
chain
A
Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
original residue
D
variation residue
A
position
1610
score
100.0
distance
110.83086
seq distance
910
chain
A
High decrease in affinity to the sea anemone toxin anthopleurin-B.
original residue
D
variation residue
R
position
1610
score
100.0
distance
110.83086
seq distance
910
chain
A
Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
original residue
D
variation residue
A
position
1610
score
100.0
distance
110.83086
seq distance
910
chain
A
High decrease in affinity to the sea anemone toxin anthopleurin-B.
original residue
D
variation residue
R
position
1610
score
100.0
distance
110.83086
seq distance
910
chain
A
In dbSNP:rs61746118.
original residue
A
variation residue
S
position
286
score
100.0
distance
111.544586
seq distance
413
chain
A
In dbSNP:rs61746118.
original residue
A
variation residue
S
position
286
score
100.0
distance
111.544586
seq distance
413
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473617.
original residue
I
variation residue
K
position
1521
score
100.0
distance
111.65019
seq distance
821
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473617.
original residue
I
variation residue
K
position
1521
score
100.0
distance
111.65019
seq distance
821
chain
A
In dbSNP:rs45553235.
original residue
Q
variation residue
K
position
1613
score
50.0
distance
113.32002
seq distance
913
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473281.
original residue
Q
variation residue
L
position
1613
score
100.0
distance
113.32002
seq distance
913
chain
A
In dbSNP:rs45553235.
original residue
Q
variation residue
K
position
1613
score
50.0
distance
113.32002
seq distance
913
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473281.
original residue
Q
variation residue
L
position
1613
score
100.0
distance
113.32002
seq distance
913
chain
A
4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
original residue
K
variation residue
A
position
1614
score
100.0
distance
113.85072
seq distance
914
chain
A
4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
original residue
K
variation residue
A
position
1614
score
100.0
distance
113.85072
seq distance
914
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473084.
original residue
G
variation residue
S
position
289
score
100.0
distance
116.48739
seq distance
410
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473084.
original residue
G
variation residue
S
position
289
score
100.0
distance
116.48739
seq distance
410
chain
A
In dbSNP:rs199473563.
original residue
N
variation residue
S
position
291
score
100.0
distance
116.86352
seq distance
408
chain
A
In dbSNP:rs199473563.
original residue
N
variation residue
S
position
291
score
100.0
distance
116.86352
seq distance
408
chain
A

Details

Redox score
80.72
PDB code
7dtc
Structure name
voltage-gated sodium channel nav1.5-e1784k
Structure deposition date
2021-01-04
Thiol separation (Å)
6
Half-sphere exposure sum
nan
Minimum pKa
9.17
% buried
0
Peptide accession
Q14524
Residue number A
699
Residue number B
700
Peptide name
Sodium channel protein type 5 subunit alpha
A redox-regulated disulphide may form within Sodium channel protein type 5 subunit alpha at these cysteines.

Relevent regions

In LQT3; unknown pathological significance; dbSNP:rs199473094.
original residue
R
variation residue
W
position
340
score
100.0
distance
4.7894526
seq distance
1
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473094.
original residue
R
variation residue
W
position
340
score
100.0
distance
4.7894526
seq distance
1
chain
A
In BRGDA1; severe reduction of sodium currents; dbSNP:rs199473093.
original residue
P
variation residue
L
position
336
score
100.0
distance
5.832228
seq distance
1
chain
A
In BRGDA1; severe reduction of sodium currents; dbSNP:rs199473093.
original residue
P
variation residue
L
position
336
score
100.0
distance
5.832228
seq distance
1
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473562.
original residue
H
variation residue
D
position
278
score
100.0
distance
8.331248
seq distance
57
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473562.
original residue
H
variation residue
D
position
278
score
100.0
distance
8.331248
seq distance
57
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473092.
original residue
L
variation residue
R
position
325
score
100.0
distance
8.806583
seq distance
10
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473092.
original residue
L
variation residue
R
position
325
score
100.0
distance
8.806583
seq distance
10
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473082.
original residue
R
variation residue
C
position
282
score
100.0
distance
9.7806015
seq distance
53
chain
A
In BRGDA1; dbSNP:rs199473083.
original residue
R
variation residue
H
position
282
score
100.0
distance
9.7806015
seq distance
53
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473082.
original residue
R
variation residue
C
position
282
score
100.0
distance
9.7806015
seq distance
53
chain
A
In BRGDA1; dbSNP:rs199473083.
original residue
R
variation residue
H
position
282
score
100.0
distance
9.7806015
seq distance
53
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473564.
original residue
L
variation residue
P
position
315
score
100.0
distance
11.387351
seq distance
20
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473564.
original residue
L
variation residue
P
position
315
score
100.0
distance
11.387351
seq distance
20
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473080.
original residue
N
variation residue
K
position
275
score
100.0
distance
12.225675
seq distance
60
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473080.
original residue
N
variation residue
K
position
275
score
100.0
distance
12.225675
seq distance
60
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473567.
original residue
G
variation residue
E
position
386
score
100.0
distance
12.581494
seq distance
45
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473102.
original residue
G
variation residue
R
position
386
score
100.0
distance
12.581494
seq distance
45
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473567.
original residue
G
variation residue
E
position
386
score
100.0
distance
12.581494
seq distance
45
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473102.
original residue
G
variation residue
R
position
386
score
100.0
distance
12.581494
seq distance
45
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473081.
original residue
L
variation residue
Q
position
276
score
100.0
distance
13.31169
seq distance
59
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473081.
original residue
L
variation residue
Q
position
276
score
100.0
distance
13.31169
seq distance
59
chain
A
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; no effect on voltage dependence for activation and inactivation; dbSNP:rs1060499900.
original residue
D
variation residue
N
position
1690
score
100.0
distance
14.329822
seq distance
1349
chain
A
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; no effect on voltage dependence for activation and inactivation; dbSNP:rs1060499900.
original residue
D
variation residue
N
position
1690
score
100.0
distance
14.329822
seq distance
1349
chain
A
In LQT3 and BRGDA1.
original residue
variation residue
position
1617
score
100.0
distance
15.188414
seq distance
1276
chain
A
In LQT3 and BRGDA1.
original residue
variation residue
position
1617
score
100.0
distance
15.188414
seq distance
1276
chain
A
In LQT3 and PFHB1A; dbSNP:rs199473282.
original residue
T
variation residue
K
position
1620
score
100.0
distance
16.951942
seq distance
1279
chain
A
In BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range; dbSNP:rs199473282.
original residue
T
variation residue
M
position
1620
score
100.0
distance
16.951942
seq distance
1279
chain
A
In LQT3 and PFHB1A; dbSNP:rs199473282.
original residue
T
variation residue
K
position
1620
score
100.0
distance
16.951942
seq distance
1279
chain
A
In BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range; dbSNP:rs199473282.
original residue
T
variation residue
M
position
1620
score
100.0
distance
16.951942
seq distance
1279
chain
A
In dbSNP:rs61746118.
original residue
A
variation residue
S
position
286
score
100.0
distance
18.570473
seq distance
49
chain
A
In dbSNP:rs61746118.
original residue
A
variation residue
S
position
286
score
100.0
distance
18.570473
seq distance
49
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473091.
original residue
T
variation residue
N
position
320
score
100.0
distance
19.48177
seq distance
15
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473091.
original residue
T
variation residue
N
position
320
score
100.0
distance
19.48177
seq distance
15
chain
A
In LQT3; dbSNP:rs199473043.
original residue
G
variation residue
V
position
319
score
50.0
distance
19.693779
seq distance
16
chain
A
In BRGDA1; dbSNP:rs199473090.
original residue
G
variation residue
S
position
319
score
100.0
distance
19.693779
seq distance
16
chain
A
In LQT3; dbSNP:rs199473043.
original residue
G
variation residue
V
position
319
score
50.0
distance
19.693779
seq distance
16
chain
A
In BRGDA1; dbSNP:rs199473090.
original residue
G
variation residue
S
position
319
score
100.0
distance
19.693779
seq distance
16
chain
A
In BRGDA1; loss of function; dbSNP:rs199473565.
original residue
D
variation residue
N
position
356
score
100.0
distance
19.829468
seq distance
15
chain
A
In BRGDA1; loss of function; dbSNP:rs199473565.
original residue
D
variation residue
N
position
356
score
100.0
distance
19.829468
seq distance
15
chain
A
In PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance; dbSNP:rs137854608.
original residue
G
variation residue
S
position
298
score
100.0
distance
19.866291
seq distance
37
chain
A
In PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance; dbSNP:rs137854608.
original residue
G
variation residue
S
position
298
score
100.0
distance
19.866291
seq distance
37
chain
A
In dbSNP:rs199473100.
original residue
R
variation residue
C
position
376
score
100.0
distance
20.434607
seq distance
35
chain
A
In BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation; dbSNP:rs199473101.
original residue
R
variation residue
H
position
376
score
100.0
distance
20.434607
seq distance
35
chain
A
In dbSNP:rs199473100.
original residue
R
variation residue
C
position
376
score
100.0
distance
20.434607
seq distance
35
chain
A
In BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation; dbSNP:rs199473101.
original residue
R
variation residue
H
position
376
score
100.0
distance
20.434607
seq distance
35
chain
A
In BRGDA1; dbSNP:rs199473096.
original residue
T
variation residue
I
position
353
score
100.0
distance
20.480003
seq distance
12
chain
A
In BRGDA1; dbSNP:rs199473096.
original residue
T
variation residue
I
position
353
score
100.0
distance
20.480003
seq distance
12
chain
A
In LQT3; dbSNP:rs137854600.
original residue
R
variation residue
L
position
1623
score
100.0
distance
20.582083
seq distance
1282
chain
A
In LQT3 and BRGDA1; dbSNP:rs137854600.
original residue
R
variation residue
Q
position
1623
score
100.0
distance
20.582083
seq distance
1282
chain
A
In LQT3; dbSNP:rs137854600.
original residue
R
variation residue
L
position
1623
score
100.0
distance
20.582083
seq distance
1282
chain
A
In LQT3 and BRGDA1; dbSNP:rs137854600.
original residue
R
variation residue
Q
position
1623
score
100.0
distance
20.582083
seq distance
1282
chain
A
In BRGDA1; dbSNP:rs199473086.
original residue
V
variation residue
M
position
294
score
100.0
distance
20.66503
seq distance
41
chain
A
In BRGDA1; dbSNP:rs199473086.
original residue
V
variation residue
M
position
294
score
100.0
distance
20.66503
seq distance
41
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473079.
original residue
Q
variation residue
K
position
270
score
100.0
distance
20.866695
seq distance
65
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473079.
original residue
Q
variation residue
K
position
270
score
100.0
distance
20.866695
seq distance
65
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473295.
original residue
A
variation residue
T
position
1698
score
100.0
distance
21.117813
seq distance
1357
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473295.
original residue
A
variation residue
T
position
1698
score
100.0
distance
21.117813
seq distance
1357
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473095.
original residue
G
variation residue
D
position
351
score
100.0
distance
21.280977
seq distance
10
chain
A
In BRGDA1; 7-fold current reduction; dbSNP:rs199473095.
original residue
G
variation residue
V
position
351
score
100.0
distance
21.280977
seq distance
10
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473095.
original residue
G
variation residue
D
position
351
score
100.0
distance
21.280977
seq distance
10
chain
A
In BRGDA1; 7-fold current reduction; dbSNP:rs199473095.
original residue
G
variation residue
V
position
351
score
100.0
distance
21.280977
seq distance
10
chain
A
In dbSNP:rs199473087.
original residue
L
variation residue
M
position
299
score
100.0
distance
21.721571
seq distance
36
chain
A
In dbSNP:rs199473087.
original residue
L
variation residue
M
position
299
score
100.0
distance
21.721571
seq distance
36
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473088.
original residue
V
variation residue
I
position
300
score
100.0
distance
22.227167
seq distance
35
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473088.
original residue
V
variation residue
I
position
300
score
100.0
distance
22.227167
seq distance
35
chain
A
In BRGDA1.
original residue
variation residue
position
393
score
100.0
distance
23.045797
seq distance
52
chain
A
In BRGDA1.
original residue
variation residue
position
393
score
100.0
distance
23.045797
seq distance
52
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473205.
original residue
Y
variation residue
H
position
1228
score
100.0
distance
23.053099
seq distance
887
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473205.
original residue
Y
variation residue
H
position
1228
score
100.0
distance
23.053099
seq distance
887
chain
A
4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
original residue
K
variation residue
A
position
1614
score
100.0
distance
24.01029
seq distance
1273
chain
A
4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
original residue
K
variation residue
A
position
1614
score
100.0
distance
24.01029
seq distance
1273
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473566.
original residue
W
variation residue
G
position
374
score
100.0
distance
24.450022
seq distance
33
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473566.
original residue
W
variation residue
G
position
374
score
100.0
distance
24.450022
seq distance
33
chain
A
In dbSNP:rs45553235.
original residue
Q
variation residue
K
position
1613
score
50.0
distance
24.484211
seq distance
1272
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473281.
original residue
Q
variation residue
L
position
1613
score
100.0
distance
24.484211
seq distance
1272
chain
A
In dbSNP:rs45553235.
original residue
Q
variation residue
K
position
1613
score
50.0
distance
24.484211
seq distance
1272
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473281.
original residue
Q
variation residue
L
position
1613
score
100.0
distance
24.484211
seq distance
1272
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473294.
original residue
A
variation residue
T
position
1680
score
100.0
distance
25.146065
seq distance
1339
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473294.
original residue
A
variation residue
T
position
1680
score
100.0
distance
25.146065
seq distance
1339
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
H
position
1626
score
100.0
distance
25.386776
seq distance
1285
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
P
position
1626
score
100.0
distance
25.386776
seq distance
1285
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
H
position
1626
score
100.0
distance
25.386776
seq distance
1285
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
P
position
1626
score
100.0
distance
25.386776
seq distance
1285
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473271.
original residue
E
variation residue
K
position
1548
score
100.0
distance
25.558882
seq distance
1207
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473271.
original residue
E
variation residue
K
position
1548
score
100.0
distance
25.558882
seq distance
1207
chain
A
In LQT3; dbSNP:rs199473598.
original residue
E
variation residue
K
position
1231
score
100.0
distance
25.944752
seq distance
890
chain
A
In LQT3; dbSNP:rs199473598.
original residue
E
variation residue
K
position
1231
score
100.0
distance
25.944752
seq distance
890
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473084.
original residue
G
variation residue
S
position
289
score
100.0
distance
26.17014
seq distance
46
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473084.
original residue
G
variation residue
S
position
289
score
100.0
distance
26.17014
seq distance
46
chain
A
In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation; dbSNP:rs199473627.
original residue
F
variation residue
S
position
1705
score
100.0
distance
26.278385
seq distance
1364
chain
A
In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation; dbSNP:rs199473627.
original residue
F
variation residue
S
position
1705
score
100.0
distance
26.278385
seq distance
1364
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473206.
original residue
R
variation residue
Q
position
1232
score
100.0
distance
26.689653
seq distance
891
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473207.
original residue
R
variation residue
W
position
1232
score
100.0
distance
26.689653
seq distance
891
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473206.
original residue
R
variation residue
Q
position
1232
score
100.0
distance
26.689653
seq distance
891
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473207.
original residue
R
variation residue
W
position
1232
score
100.0
distance
26.689653
seq distance
891
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473298.
original residue
G
variation residue
S
position
1712
score
100.0
distance
26.848028
seq distance
1371
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473298.
original residue
G
variation residue
S
position
1712
score
100.0
distance
26.848028
seq distance
1371
chain
A
Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
original residue
D
variation residue
A
position
1610
score
100.0
distance
27.123318
seq distance
1269
chain
A
High decrease in affinity to the sea anemone toxin anthopleurin-B.
original residue
D
variation residue
R
position
1610
score
100.0
distance
27.123318
seq distance
1269
chain
A
Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
original residue
D
variation residue
A
position
1610
score
100.0
distance
27.123318
seq distance
1269
chain
A
High decrease in affinity to the sea anemone toxin anthopleurin-B.
original residue
D
variation residue
R
position
1610
score
100.0
distance
27.123318
seq distance
1269
chain
A
In dbSNP:rs199473563.
original residue
N
variation residue
S
position
291
score
100.0
distance
27.401928
seq distance
44
chain
A
In dbSNP:rs199473563.
original residue
N
variation residue
S
position
291
score
100.0
distance
27.401928
seq distance
44
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473103.
original residue
V
variation residue
A
position
396
score
100.0
distance
27.516933
seq distance
55
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473104.
original residue
V
variation residue
L
position
396
score
100.0
distance
27.516933
seq distance
55
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473103.
original residue
V
variation residue
A
position
396
score
100.0
distance
27.516933
seq distance
55
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473104.
original residue
V
variation residue
L
position
396
score
100.0
distance
27.516933
seq distance
55
chain
A
In LQT3; dbSNP:rs199473622.
original residue
S
variation residue
W
position
1609
score
100.0
distance
27.708023
seq distance
1268
chain
A
In LQT3; dbSNP:rs199473622.
original residue
S
variation residue
W
position
1609
score
100.0
distance
27.708023
seq distance
1268
chain
A
In BRGDA1 and LQT3; express no current; dbSNP:rs199473097.
original residue
R
variation residue
C
position
367
score
100.0
distance
27.896152
seq distance
26
chain
A
In BRGDA1; express no current; dbSNP:rs28937318.
original residue
R
variation residue
H
position
367
score
100.0
distance
27.896152
seq distance
26
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs28937318.
original residue
R
variation residue
L
position
367
score
100.0
distance
27.896152
seq distance
26
chain
A
In BRGDA1 and LQT3; express no current; dbSNP:rs199473097.
original residue
R
variation residue
C
position
367
score
100.0
distance
27.896152
seq distance
26
chain
A
In BRGDA1; express no current; dbSNP:rs28937318.
original residue
R
variation residue
H
position
367
score
100.0
distance
27.896152
seq distance
26
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs28937318.
original residue
R
variation residue
L
position
367
score
100.0
distance
27.896152
seq distance
26
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473105.
original residue
I
variation residue
T
position
397
score
100.0
distance
28.555756
seq distance
56
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473105.
original residue
I
variation residue
T
position
397
score
100.0
distance
28.555756
seq distance
56
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473302.
original residue
C
variation residue
R
position
1728
score
100.0
distance
28.590843
seq distance
1387
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs193922726.
original residue
C
variation residue
W
position
1728
score
100.0
distance
28.590843
seq distance
1387
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473302.
original residue
C
variation residue
R
position
1728
score
100.0
distance
28.590843
seq distance
1387
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs193922726.
original residue
C
variation residue
W
position
1728
score
100.0
distance
28.590843
seq distance
1387
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473174.
original residue
E
variation residue
K
position
901
score
100.0
distance
28.720224
seq distance
560
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473174.
original residue
E
variation residue
K
position
901
score
100.0
distance
28.720224
seq distance
560
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473204.
original residue
E
variation residue
K
position
1225
score
100.0
distance
28.815723
seq distance
884
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473204.
original residue
E
variation residue
K
position
1225
score
100.0
distance
28.815723
seq distance
884
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473626.
original residue
S
variation residue
Y
position
1672
score
100.0
distance
28.841112
seq distance
1331
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473626.
original residue
S
variation residue
Y
position
1672
score
100.0
distance
28.841112
seq distance
1331
chain
A
In BRGDA1; dbSNP:rs199473304.
original residue
G
variation residue
R
position
1740
score
100.0
distance
29.680042
seq distance
1399
chain
A
In BRGDA1; dbSNP:rs199473304.
original residue
G
variation residue
R
position
1740
score
100.0
distance
29.680042
seq distance
1399
chain
A
In BRGDA1; strong decrease of current density; does not affect ion selectivity properties; dbSNP:rs199473628.
original residue
D
variation residue
G
position
1714
score
100.0
distance
29.82407
seq distance
1373
chain
A
In BRGDA1; strong decrease of current density; does not affect ion selectivity properties; dbSNP:rs199473628.
original residue
D
variation residue
G
position
1714
score
100.0
distance
29.82407
seq distance
1373
chain
A
In BRGDA1; dbSNP:rs199473098.
original residue
M
variation residue
K
position
369
score
100.0
distance
30.446991
seq distance
28
chain
A
In BRGDA1; dbSNP:rs199473098.
original residue
M
variation residue
K
position
369
score
100.0
distance
30.446991
seq distance
28
chain
A
In BRGDA1; dbSNP:rs199473629.
original residue
G
variation residue
E
position
1743
score
100.0
distance
30.53721
seq distance
1402
chain
A
In BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells; dbSNP:rs199473305.
original residue
G
variation residue
R
position
1743
score
100.0
distance
30.53721
seq distance
1402
chain
A
In BRGDA1; dbSNP:rs199473629.
original residue
G
variation residue
E
position
1743
score
100.0
distance
30.53721
seq distance
1402
chain
A
In BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells; dbSNP:rs199473305.
original residue
G
variation residue
R
position
1743
score
100.0
distance
30.53721
seq distance
1402
chain
A
In BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation; dbSNP:rs199473180.
original residue
R
variation residue
C
position
1629
score
59.09090909090909
distance
30.793783
seq distance
1288
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
H
position
1629
score
59.09090909090909
distance
30.793783
seq distance
1288
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
L
position
1629
score
59.09090909090909
distance
30.793783
seq distance
1288
chain
A
In BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation; dbSNP:rs199473623.
original residue
R
variation residue
Q
position
1629
score
100.0
distance
30.793783
seq distance
1288
chain
A
In BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation; dbSNP:rs199473180.
original residue
R
variation residue
C
position
1629
score
59.09090909090909
distance
30.793783
seq distance
1288
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
H
position
1629
score
59.09090909090909
distance
30.793783
seq distance
1288
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
L
position
1629
score
59.09090909090909
distance
30.793783
seq distance
1288
chain
A
In BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation; dbSNP:rs199473623.
original residue
R
variation residue
Q
position
1629
score
100.0
distance
30.793783
seq distance
1288
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473619.
original residue
L
variation residue
F
position
1560
score
100.0
distance
30.80175
seq distance
1219
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473619.
original residue
L
variation residue
F
position
1560
score
100.0
distance
30.80175
seq distance
1219
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
M
position
1709
score
100.0
distance
30.878633
seq distance
1368
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
R
position
1709
score
100.0
distance
30.878633
seq distance
1368
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
M
position
1709
score
100.0
distance
30.878633
seq distance
1368
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
R
position
1709
score
100.0
distance
30.878633
seq distance
1368
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473299.
original residue
N
variation residue
D
position
1722
score
100.0
distance
31.243645
seq distance
1381
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473299.
original residue
N
variation residue
D
position
1722
score
100.0
distance
31.243645
seq distance
1381
chain
A
In VF1; dbSNP:rs137854604.
original residue
S
variation residue
L
position
1710
score
100.0
distance
31.511066
seq distance
1369
chain
A
In VF1; dbSNP:rs137854604.
original residue
S
variation residue
L
position
1710
score
100.0
distance
31.511066
seq distance
1369
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473303.
original residue
R
variation residue
W
position
1739
score
100.0
distance
31.89092
seq distance
1398
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473303.
original residue
R
variation residue
W
position
1739
score
100.0
distance
31.89092
seq distance
1398
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473099.
original residue
T
variation residue
M
position
370
score
100.0
distance
31.966488
seq distance
29
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473099.
original residue
T
variation residue
M
position
370
score
100.0
distance
31.966488
seq distance
29
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473611.
original residue
G
variation residue
R
position
1420
score
100.0
distance
32.11806
seq distance
1079
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473611.
original residue
G
variation residue
R
position
1420
score
100.0
distance
32.11806
seq distance
1079
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473242.
original residue
K
variation residue
E
position
1419
score
100.0
distance
32.290333
seq distance
1078
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473242.
original residue
K
variation residue
E
position
1419
score
100.0
distance
32.290333
seq distance
1078
chain
A
In BRGDA1; dbSNP:rs199473208.
original residue
K
variation residue
N
position
1236
score
100.0
distance
32.595364
seq distance
895
chain
A
In BRGDA1; dbSNP:rs199473208.
original residue
K
variation residue
N
position
1236
score
100.0
distance
32.595364
seq distance
895
chain
A
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; changed voltage dependence for activation and inactivation.
original residue
G
variation residue
D
position
1748
score
100.0
distance
33.507725
seq distance
1407
chain
A
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; changed voltage dependence for activation and inactivation.
original residue
G
variation residue
D
position
1748
score
100.0
distance
33.507725
seq distance
1407
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473300.
original residue
T
variation residue
N
position
1723
score
100.0
distance
33.561733
seq distance
1382
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473300.
original residue
T
variation residue
N
position
1723
score
100.0
distance
33.561733
seq distance
1382
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473280.
original residue
V
variation residue
M
position
1604
score
100.0
distance
33.742733
seq distance
1263
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473280.
original residue
V
variation residue
M
position
1604
score
100.0
distance
33.742733
seq distance
1263
chain
A
Phosphoserine
position
1744
score
50.0
distance
34.121964
seq distance
1403
chain
A
Phosphoserine
position
1744
score
50.0
distance
34.121964
seq distance
1403
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473293.
original residue
V
variation residue
I
position
1667
score
100.0
distance
35.24731
seq distance
1326
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473293.
original residue
V
variation residue
I
position
1667
score
100.0
distance
35.24731
seq distance
1326
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473210.
original residue
L
variation residue
P
position
1239
score
100.0
distance
35.425457
seq distance
898
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473210.
original residue
L
variation residue
P
position
1239
score
100.0
distance
35.425457
seq distance
898
chain
A
In BRGDA1; dbSNP:rs199473168.
original residue
R
variation residue
C
position
878
score
100.0
distance
35.829777
seq distance
537
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473587.
original residue
R
variation residue
H
position
878
score
100.0
distance
35.829777
seq distance
537
chain
A
In BRGDA1; dbSNP:rs199473168.
original residue
R
variation residue
C
position
878
score
100.0
distance
35.829777
seq distance
537
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473587.
original residue
R
variation residue
H
position
878
score
100.0
distance
35.829777
seq distance
537
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473292.
original residue
G
variation residue
R
position
1661
score
100.0
distance
35.873726
seq distance
1320
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473292.
original residue
G
variation residue
R
position
1661
score
100.0
distance
35.873726
seq distance
1320
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473597.
original residue
S
variation residue
N
position
1219
score
100.0
distance
35.912785
seq distance
878
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473597.
original residue
S
variation residue
N
position
1219
score
100.0
distance
35.912785
seq distance
878
chain
A
In BRGDA1; dbSNP:rs199473175.
original residue
S
variation residue
L
position
910
score
100.0
distance
36.002666
seq distance
569
chain
A
In BRGDA1; dbSNP:rs199473175.
original residue
S
variation residue
L
position
910
score
100.0
distance
36.002666
seq distance
569
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473588.
original residue
C
variation residue
R
position
915
score
100.0
distance
36.030327
seq distance
574
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473588.
original residue
C
variation residue
R
position
915
score
100.0
distance
36.030327
seq distance
574
chain
A
In LQT3; dbSNP:rs199473603.
original residue
T
variation residue
M
position
1304
score
100.0
distance
36.776077
seq distance
963
chain
A
In LQT3; dbSNP:rs199473603.
original residue
T
variation residue
M
position
1304
score
100.0
distance
36.776077
seq distance
963
chain
A
In LQT3; dbSNP:rs199473107.
original residue
L
variation residue
Q
position
404
score
100.0
distance
37.198067
seq distance
63
chain
A
In LQT3; dbSNP:rs199473107.
original residue
L
variation residue
Q
position
404
score
100.0
distance
37.198067
seq distance
63
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473237.
original residue
C
variation residue
Y
position
1363
score
100.0
distance
37.621395
seq distance
1022
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473237.
original residue
C
variation residue
Y
position
1363
score
100.0
distance
37.621395
seq distance
1022
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473171.
original residue
R
variation residue
C
position
893
score
100.0
distance
37.938324
seq distance
552
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473172.
original residue
R
variation residue
H
position
893
score
100.0
distance
37.938324
seq distance
552
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473171.
original residue
R
variation residue
C
position
893
score
100.0
distance
37.938324
seq distance
552
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473172.
original residue
R
variation residue
H
position
893
score
100.0
distance
37.938324
seq distance
552
chain
A
May confer susceptibility to acquired arrhythmia; dbSNP:rs7626962.
original residue
S
variation residue
Y
position
1218
score
50.0
distance
38.07827
seq distance
877
chain
A
May confer susceptibility to acquired arrhythmia; dbSNP:rs7626962.
original residue
S
variation residue
Y
position
1218
score
50.0
distance
38.07827
seq distance
877
chain
A
In dbSNP:rs199473211.
original residue
E
variation residue
Q
position
1240
score
100.0
distance
38.12694
seq distance
899
chain
A
In dbSNP:rs199473211.
original residue
E
variation residue
Q
position
1240
score
100.0
distance
38.12694
seq distance
899
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473176.
original residue
L
variation residue
R
position
917
score
100.0
distance
38.204613
seq distance
576
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473176.
original residue
L
variation residue
R
position
917
score
100.0
distance
38.204613
seq distance
576
chain
A
In BRGDA1; dbSNP:rs199473173.
original residue
C
variation residue
S
position
896
score
100.0
distance
38.293728
seq distance
555
chain
A
In BRGDA1; dbSNP:rs199473173.
original residue
C
variation residue
S
position
896
score
100.0
distance
38.293728
seq distance
555
chain
A
In LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation; dbSNP:rs794728898.
original residue
H
variation residue
R
position
880
score
50.0
distance
38.30319
seq distance
539
chain
A
In LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation; dbSNP:rs794728898.
original residue
H
variation residue
R
position
880
score
50.0
distance
38.30319
seq distance
539
chain
A
In LQT3; dbSNP:rs199473631.
original residue
V
variation residue
M
position
1763
score
100.0
distance
38.33069
seq distance
1422
chain
A
In LQT3; dbSNP:rs199473631.
original residue
V
variation residue
M
position
1763
score
100.0
distance
38.33069
seq distance
1422
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473244.
original residue
A
variation residue
S
position
1427
score
100.0
distance
38.45149
seq distance
1086
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473244.
original residue
A
variation residue
S
position
1427
score
100.0
distance
38.45149
seq distance
1086
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473167.
original residue
E
variation residue
Q
position
867
score
100.0
distance
39.338337
seq distance
526
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473167.
original residue
E
variation residue
Q
position
867
score
100.0
distance
39.338337
seq distance
526
chain
A
In BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane; dbSNP:rs199473625.
original residue
I
variation residue
V
position
1660
score
100.0
distance
39.41173
seq distance
1319
chain
A
In BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane; dbSNP:rs199473625.
original residue
I
variation residue
V
position
1660
score
100.0
distance
39.41173
seq distance
1319
chain
A
Associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031.
original residue
L
variation residue
F
position
1308
score
100.0
distance
39.498486
seq distance
967
chain
A
Associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031.
original residue
L
variation residue
F
position
1308
score
100.0
distance
39.498486
seq distance
967
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473599.
original residue
D
variation residue
N
position
1243
score
100.0
distance
40.181454
seq distance
902
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473599.
original residue
D
variation residue
N
position
1243
score
100.0
distance
40.181454
seq distance
902
chain
A
In dbSNP:rs199473177.
original residue
V
variation residue
I
position
924
score
100.0
distance
40.247166
seq distance
583
chain
A
In dbSNP:rs199473177.
original residue
V
variation residue
I
position
924
score
100.0
distance
40.247166
seq distance
583
chain
A
In LQT3; dbSNP:rs199473108.
original residue
N
variation residue
K
position
406
score
100.0
distance
40.50359
seq distance
65
chain
A
In BRGDA1; dbSNP:rs199473568.
original residue
N
variation residue
S
position
406
score
100.0
distance
40.50359
seq distance
65
chain
A
In LQT3; dbSNP:rs199473108.
original residue
N
variation residue
K
position
406
score
100.0
distance
40.50359
seq distance
65
chain
A
In BRGDA1; dbSNP:rs199473568.
original residue
N
variation residue
S
position
406
score
100.0
distance
40.50359
seq distance
65
chain
A
In LQT3; affects protein trafficking; dbSNP:rs199473310.
original residue
M
variation residue
L
position
1766
score
100.0
distance
40.602646
seq distance
1425
chain
A
In LQT3; affects protein trafficking; dbSNP:rs199473310.
original residue
M
variation residue
L
position
1766
score
100.0
distance
40.602646
seq distance
1425
chain
A
In BRGDA1; asymptomatic patient; associated with R-1527; dbSNP:rs199473273.
original residue
A
variation residue
P
position
1569
score
100.0
distance
40.807095
seq distance
1228
chain
A
In BRGDA1; asymptomatic patient; associated with R-1527; dbSNP:rs199473273.
original residue
A
variation residue
P
position
1569
score
100.0
distance
40.807095
seq distance
1228
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473236.
original residue
F
variation residue
C
position
1360
score
100.0
distance
40.97714
seq distance
1019
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473236.
original residue
F
variation residue
C
position
1360
score
100.0
distance
40.97714
seq distance
1019
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473290.
original residue
L
variation residue
F
position
1650
score
100.0
distance
41.32774
seq distance
1309
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473290.
original residue
L
variation residue
F
position
1650
score
100.0
distance
41.32774
seq distance
1309
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473307.
original residue
L
variation residue
F
position
1761
score
100.0
distance
41.517315
seq distance
1420
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473308.
original residue
L
variation residue
H
position
1761
score
100.0
distance
41.517315
seq distance
1420
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473307.
original residue
L
variation residue
F
position
1761
score
100.0
distance
41.517315
seq distance
1420
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473308.
original residue
L
variation residue
H
position
1761
score
100.0
distance
41.517315
seq distance
1420
chain
A
In BRGDA1; dbSNP:rs199473170.
original residue
F
variation residue
I
position
892
score
100.0
distance
41.653477
seq distance
551
chain
A
In BRGDA1; dbSNP:rs199473170.
original residue
F
variation residue
I
position
892
score
100.0
distance
41.653477
seq distance
551
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473219.
original residue
L
variation residue
P
position
1311
score
100.0
distance
41.730476
seq distance
970
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473219.
original residue
L
variation residue
P
position
1311
score
100.0
distance
41.730476
seq distance
970
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473589.
original residue
N
variation residue
S
position
927
score
100.0
distance
41.75012
seq distance
586
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473589.
original residue
N
variation residue
S
position
927
score
100.0
distance
41.75012
seq distance
586
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473241.
original residue
L
variation residue
F
position
1412
score
100.0
distance
41.780907
seq distance
1071
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473241.
original residue
L
variation residue
F
position
1412
score
100.0
distance
41.780907
seq distance
1071
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473277.
original residue
F
variation residue
S
position
1594
score
100.0
distance
41.83145
seq distance
1253
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473277.
original residue
F
variation residue
S
position
1594
score
100.0
distance
41.83145
seq distance
1253
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473248.
original residue
P
variation residue
L
position
1438
score
100.0
distance
41.842865
seq distance
1097
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473248.
original residue
P
variation residue
L
position
1438
score
100.0
distance
41.842865
seq distance
1097
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473274.
original residue
F
variation residue
C
position
1571
score
100.0
distance
41.84741
seq distance
1230
chain
A
In BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest; dbSNP:rs1369632373.
original residue
F
variation residue
L
position
1571
score
100.0
distance
41.84741
seq distance
1230
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473274.
original residue
F
variation residue
C
position
1571
score
100.0
distance
41.84741
seq distance
1230
chain
A
In BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest; dbSNP:rs1369632373.
original residue
F
variation residue
L
position
1571
score
100.0
distance
41.84741
seq distance
1230
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473309.
original residue
V
variation residue
F
position
1764
score
100.0
distance
41.917774
seq distance
1423
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473309.
original residue
V
variation residue
F
position
1764
score
100.0
distance
41.917774
seq distance
1423
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473612.
original residue
A
variation residue
V
position
1428
score
100.0
distance
41.936005
seq distance
1087
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473612.
original residue
A
variation residue
V
position
1428
score
100.0
distance
41.936005
seq distance
1087
chain
A
In PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3; dbSNP:rs137854607.
original residue
D
variation residue
N
position
1595
score
100.0
distance
42.123486
seq distance
1254
chain
A
In PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3; dbSNP:rs137854607.
original residue
D
variation residue
N
position
1595
score
100.0
distance
42.123486
seq distance
1254
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473632.
original residue
Y
variation residue
C
position
1767
score
100.0
distance
42.183586
seq distance
1426
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473632.
original residue
Y
variation residue
C
position
1767
score
100.0
distance
42.183586
seq distance
1426
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473169.
original residue
H
variation residue
P
position
886
score
100.0
distance
42.484615
seq distance
545
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473169.
original residue
H
variation residue
P
position
886
score
100.0
distance
42.484615
seq distance
545
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473278.
original residue
F
variation residue
I
position
1596
score
100.0
distance
42.744934
seq distance
1255
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473278.
original residue
F
variation residue
I
position
1596
score
100.0
distance
42.744934
seq distance
1255
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473249.
original residue
E
variation residue
Q
position
1441
score
100.0
distance
43.135754
seq distance
1100
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473249.
original residue
E
variation residue
Q
position
1441
score
100.0
distance
43.135754
seq distance
1100
chain
A
In LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation; dbSNP:rs199473218.
original residue
E
variation residue
K
position
1295
score
100.0
distance
43.45112
seq distance
954
chain
A
In LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation; dbSNP:rs199473218.
original residue
E
variation residue
K
position
1295
score
100.0
distance
43.45112
seq distance
954
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473610.
original residue
Y
variation residue
C
position
1409
score
100.0
distance
43.51054
seq distance
1068
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473610.
original residue
Y
variation residue
C
position
1409
score
100.0
distance
43.51054
seq distance
1068
chain
A
In SSS1 and BRGDA1; dbSNP:rs137854612.
original residue
G
variation residue
R
position
1408
score
100.0
distance
43.990776
seq distance
1067
chain
A
In SSS1 and BRGDA1; dbSNP:rs137854612.
original residue
G
variation residue
R
position
1408
score
100.0
distance
43.990776
seq distance
1067
chain
A
In SSS1; dbSNP:rs28937319.
original residue
P
variation residue
L
position
1298
score
100.0
distance
44.100353
seq distance
957
chain
A
In SSS1; dbSNP:rs28937319.
original residue
P
variation residue
L
position
1298
score
100.0
distance
44.100353
seq distance
957
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473109.
original residue
L
variation residue
V
position
409
score
100.0
distance
44.158604
seq distance
68
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473109.
original residue
L
variation residue
V
position
409
score
100.0
distance
44.158604
seq distance
68
chain
A
In LQT3; unknown pathological significance; dbSNP:rs794728920.
original residue
variation residue
position
1212
score
100.0
distance
44.16956
seq distance
871
chain
A
In LQT3; unknown pathological significance; dbSNP:rs794728920.
original residue
variation residue
position
1212
score
100.0
distance
44.16956
seq distance
871
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473178.
original residue
L
variation residue
P
position
928
score
100.0
distance
44.28456
seq distance
587
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473178.
original residue
L
variation residue
P
position
928
score
100.0
distance
44.28456
seq distance
587
chain
A
In LQT3; dbSNP:rs199473253.
original residue
S
variation residue
Y
position
1458
score
100.0
distance
44.49893
seq distance
1117
chain
A
In LQT3; dbSNP:rs199473253.
original residue
S
variation residue
Y
position
1458
score
100.0
distance
44.49893
seq distance
1117
chain
A
In BRGDA1; dbSNP:rs199473289.
original residue
A
variation residue
V
position
1649
score
100.0
distance
44.62773
seq distance
1308
chain
A
In LQT3; dbSNP:rs199473330.
original residue
A
variation residue
S
position
1649
score
54.54545454545454
distance
44.62773
seq distance
1308
chain
A
In BRGDA1; dbSNP:rs199473289.
original residue
A
variation residue
V
position
1649
score
100.0
distance
44.62773
seq distance
1308
chain
A
In LQT3; dbSNP:rs199473330.
original residue
A
variation residue
S
position
1649
score
54.54545454545454
distance
44.62773
seq distance
1308
chain
A
In BRGDA1; dbSNP:rs199473220.
original residue
G
variation residue
V
position
1319
score
100.0
distance
44.68666
seq distance
978
chain
A
In BRGDA1; dbSNP:rs199473220.
original residue
G
variation residue
V
position
1319
score
100.0
distance
44.68666
seq distance
978
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473235.
original residue
K
variation residue
N
position
1359
score
100.0
distance
44.70981
seq distance
1018
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473235.
original residue
K
variation residue
N
position
1359
score
100.0
distance
44.70981
seq distance
1018
chain
A
In LQT3; dbSNP:rs199473287.
original residue
R
variation residue
C
position
1644
score
100.0
distance
44.901867
seq distance
1303
chain
A
In LQT3; dbSNP:rs28937316.
original residue
R
variation residue
H
position
1644
score
100.0
distance
44.901867
seq distance
1303
chain
A
In LQT3; dbSNP:rs199473287.
original residue
R
variation residue
C
position
1644
score
100.0
distance
44.901867
seq distance
1303
chain
A
In LQT3; dbSNP:rs28937316.
original residue
R
variation residue
H
position
1644
score
100.0
distance
44.901867
seq distance
1303
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473276.
original residue
I
variation residue
M
position
1593
score
100.0
distance
45.088547
seq distance
1252
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473276.
original residue
I
variation residue
M
position
1593
score
100.0
distance
45.088547
seq distance
1252
chain
A
In LQT3; dbSNP:rs199473291.
original residue
M
variation residue
R
position
1652
score
100.0
distance
45.285603
seq distance
1311
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473291.
original residue
M
variation residue
T
position
1652
score
100.0
distance
45.285603
seq distance
1311
chain
A
In LQT3; dbSNP:rs199473291.
original residue
M
variation residue
R
position
1652
score
100.0
distance
45.285603
seq distance
1311
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473291.
original residue
M
variation residue
T
position
1652
score
100.0
distance
45.285603
seq distance
1311
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473609.
original residue
G
variation residue
E
position
1406
score
100.0
distance
45.42286
seq distance
1065
chain
A
In BRGDA1; dbSNP:rs199473240.
original residue
G
variation residue
R
position
1406
score
100.0
distance
45.42286
seq distance
1065
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473609.
original residue
G
variation residue
E
position
1406
score
100.0
distance
45.42286
seq distance
1065
chain
A
In BRGDA1; dbSNP:rs199473240.
original residue
G
variation residue
R
position
1406
score
100.0
distance
45.42286
seq distance
1065
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473252.
original residue
V
variation residue
D
position
1451
score
100.0
distance
45.462288
seq distance
1110
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473252.
original residue
V
variation residue
D
position
1451
score
100.0
distance
45.462288
seq distance
1110
chain
A
In LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve; dbSNP:rs199473311.
original residue
I
variation residue
V
position
1768
score
100.0
distance
45.612488
seq distance
1427
chain
A
In LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve; dbSNP:rs199473311.
original residue
I
variation residue
V
position
1768
score
100.0
distance
45.612488
seq distance
1427
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473221.
original residue
V
variation residue
G
position
1323
score
100.0
distance
45.652706
seq distance
982
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473221.
original residue
V
variation residue
G
position
1323
score
100.0
distance
45.652706
seq distance
982
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473234.
original residue
G
variation residue
W
position
1358
score
100.0
distance
46.2684
seq distance
1017
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473234.
original residue
G
variation residue
W
position
1358
score
100.0
distance
46.2684
seq distance
1017
chain
A
In dbSNP:rs41313697.
original residue
L
variation residue
V
position
1286
score
54.54545454545454
distance
46.70918
seq distance
945
chain
A
In dbSNP:rs41313697.
original residue
L
variation residue
V
position
1286
score
54.54545454545454
distance
46.70918
seq distance
945
chain
A
In LQT3; dbSNP:rs199473615.
original residue
F
variation residue
L
position
1486
score
100.0
distance
46.71
seq distance
1145
chain
A
In LQT3; dbSNP:rs199473615.
original residue
F
variation residue
L
position
1486
score
100.0
distance
46.71
seq distance
1145
chain
A
In LQT3; dbSNP:rs199473288.
original residue
T
variation residue
M
position
1645
score
100.0
distance
46.734665
seq distance
1304
chain
A
In LQT3; dbSNP:rs199473288.
original residue
T
variation residue
M
position
1645
score
100.0
distance
46.734665
seq distance
1304
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473045.
original residue
R
variation residue
H
position
1432
score
54.54545454545454
distance
46.85989
seq distance
1091
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473245.
original residue
R
variation residue
G
position
1432
score
100.0
distance
46.85989
seq distance
1091
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473246.
original residue
R
variation residue
S
position
1432
score
100.0
distance
46.85989
seq distance
1091
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473045.
original residue
R
variation residue
H
position
1432
score
54.54545454545454
distance
46.85989
seq distance
1091
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473245.
original residue
R
variation residue
G
position
1432
score
100.0
distance
46.85989
seq distance
1091
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473246.
original residue
R
variation residue
S
position
1432
score
100.0
distance
46.85989
seq distance
1091
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473620.
original residue
E
variation residue
K
position
1574
score
100.0
distance
47.080914
seq distance
1233
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473620.
original residue
E
variation residue
K
position
1574
score
100.0
distance
47.080914
seq distance
1233
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473624.
original residue
G
variation residue
E
position
1642
score
100.0
distance
47.097046
seq distance
1301
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473624.
original residue
G
variation residue
E
position
1642
score
100.0
distance
47.097046
seq distance
1301
chain
A
In LQT3; dbSNP:rs72549410.
original residue
V
variation residue
M
position
411
score
100.0
distance
47.436897
seq distance
70
chain
A
In LQT3; dbSNP:rs72549410.
original residue
V
variation residue
M
position
411
score
100.0
distance
47.436897
seq distance
70
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473250.
original residue
I
variation residue
L
position
1448
score
100.0
distance
47.55652
seq distance
1107
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473251.
original residue
I
variation residue
T
position
1448
score
100.0
distance
47.55652
seq distance
1107
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473250.
original residue
I
variation residue
L
position
1448
score
100.0
distance
47.55652
seq distance
1107
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473251.
original residue
I
variation residue
T
position
1448
score
100.0
distance
47.55652
seq distance
1107
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473613.
original residue
Y
variation residue
C
position
1449
score
100.0
distance
47.674347
seq distance
1108
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473613.
original residue
Y
variation residue
C
position
1449
score
100.0
distance
47.674347
seq distance
1108
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473258.
original residue
M
variation residue
L
position
1487
score
100.0
distance
47.756676
seq distance
1146
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473258.
original residue
M
variation residue
L
position
1487
score
100.0
distance
47.756676
seq distance
1146
chain
A
In BRGDA1; dbSNP:rs199473239.
original residue
V
variation residue
L
position
1405
score
100.0
distance
47.94106
seq distance
1064
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473239.
original residue
V
variation residue
M
position
1405
score
100.0
distance
47.94106
seq distance
1064
chain
A
In BRGDA1; dbSNP:rs199473239.
original residue
V
variation residue
L
position
1405
score
100.0
distance
47.94106
seq distance
1064
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473239.
original residue
V
variation residue
M
position
1405
score
100.0
distance
47.94106
seq distance
1064
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs41311127.
original residue
F
variation residue
S
position
1293
score
100.0
distance
48.09983
seq distance
952
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs41311127.
original residue
F
variation residue
S
position
1293
score
100.0
distance
48.09983
seq distance
952
chain
A
In LQT3; drug-induced LQT syndrome; dbSNP:rs45589741.
original residue
F
variation residue
L
position
1250
score
100.0
distance
48.205616
seq distance
909
chain
A
In LQT3; drug-induced LQT syndrome; dbSNP:rs45589741.
original residue
F
variation residue
L
position
1250
score
100.0
distance
48.205616
seq distance
909
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473213.
original residue
V
variation residue
D
position
1249
score
100.0
distance
48.34373
seq distance
908
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473213.
original residue
V
variation residue
D
position
1249
score
100.0
distance
48.34373
seq distance
908
chain
A
In BRGDA1; dbSNP:rs199473608.
original residue
S
variation residue
I
position
1382
score
100.0
distance
48.397564
seq distance
1041
chain
A
In BRGDA1; dbSNP:rs199473608.
original residue
S
variation residue
I
position
1382
score
100.0
distance
48.397564
seq distance
1041
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473217.
original residue
A
variation residue
G
position
1288
score
100.0
distance
48.451298
seq distance
947
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473217.
original residue
A
variation residue
G
position
1288
score
100.0
distance
48.451298
seq distance
947
chain
A
In dbSNP:rs199473191.
original residue
V
variation residue
L
position
1284
score
50.0
distance
48.614067
seq distance
943
chain
A
In dbSNP:rs199473191.
original residue
V
variation residue
L
position
1284
score
50.0
distance
48.614067
seq distance
943
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473614.
original residue
N
variation residue
Y
position
1463
score
100.0
distance
48.70811
seq distance
1122
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473614.
original residue
N
variation residue
Y
position
1463
score
100.0
distance
48.70811
seq distance
1122
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473247.
original residue
G
variation residue
V
position
1433
score
100.0
distance
48.745445
seq distance
1092
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473247.
original residue
G
variation residue
V
position
1433
score
100.0
distance
48.745445
seq distance
1092
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473216.
original residue
L
variation residue
M
position
1283
score
100.0
distance
48.782112
seq distance
942
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473216.
original residue
L
variation residue
M
position
1283
score
100.0
distance
48.782112
seq distance
942
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473233.
original residue
V
variation residue
M
position
1353
score
100.0
distance
48.93434
seq distance
1012
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473233.
original residue
V
variation residue
M
position
1353
score
100.0
distance
48.93434
seq distance
1012
chain
A
In CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials; dbSNP:rs137854618.
original residue
D
variation residue
N
position
1275
score
100.0
distance
48.947453
seq distance
934
chain
A
In CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials; dbSNP:rs137854618.
original residue
D
variation residue
N
position
1275
score
100.0
distance
48.947453
seq distance
934
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473618.
original residue
V
variation residue
I
position
1532
score
100.0
distance
49.086376
seq distance
1191
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473618.
original residue
V
variation residue
I
position
1532
score
100.0
distance
49.086376
seq distance
1191
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473078.
original residue
V
variation residue
L
position
247
score
100.0
distance
49.109272
seq distance
88
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473078.
original residue
V
variation residue
L
position
247
score
100.0
distance
49.109272
seq distance
88
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473259.
original residue
T
variation residue
R
position
1488
score
100.0
distance
49.295013
seq distance
1147
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473259.
original residue
T
variation residue
R
position
1488
score
100.0
distance
49.295013
seq distance
1147
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473222.
original residue
A
variation residue
S
position
1326
score
100.0
distance
49.583927
seq distance
985
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473222.
original residue
A
variation residue
S
position
1326
score
100.0
distance
49.583927
seq distance
985
chain
A
In BRGDA1; dbSNP:rs199473261.
original residue
Y
variation residue
N
position
1494
score
100.0
distance
49.585003
seq distance
1153
chain
A
In BRGDA1; dbSNP:rs199473261.
original residue
Y
variation residue
N
position
1494
score
100.0
distance
49.585003
seq distance
1153
chain
A
In BRGDA1; dbSNP:rs199473586.
original residue
F
variation residue
L
position
851
score
100.0
distance
49.609253
seq distance
510
chain
A
In BRGDA1; dbSNP:rs199473586.
original residue
F
variation residue
L
position
851
score
100.0
distance
49.609253
seq distance
510
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473262.
original residue
Y
variation residue
S
position
1495
score
100.0
distance
49.659496
seq distance
1154
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473262.
original residue
Y
variation residue
S
position
1495
score
100.0
distance
49.659496
seq distance
1154
chain
A
Found in a patient with long QT syndrome; unknown pathological significance; dbSNP:rs199473263.
original residue
M
variation residue
T
position
1498
score
100.0
distance
49.683674
seq distance
1157
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473264.
original residue
M
variation residue
V
position
1498
score
100.0
distance
49.683674
seq distance
1157
chain
A
Found in a patient with long QT syndrome; unknown pathological significance; dbSNP:rs199473263.
original residue
M
variation residue
T
position
1498
score
100.0
distance
49.683674
seq distance
1157
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473264.
original residue
M
variation residue
V
position
1498
score
100.0
distance
49.683674
seq distance
1157
chain
A
In LQT3; dbSNP:rs199473321.
original residue
D
variation residue
G
position
1280
score
50.0
distance
49.848835
seq distance
939
chain
A
In LQT3; dbSNP:rs199473321.
original residue
D
variation residue
G
position
1280
score
50.0
distance
49.848835
seq distance
939
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473227.
original residue
L
variation residue
V
position
1338
score
100.0
distance
50.034683
seq distance
997
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473227.
original residue
L
variation residue
V
position
1338
score
100.0
distance
50.034683
seq distance
997
chain
A
In LQT3; dbSNP:rs28937317.
original residue
N
variation residue
S
position
1325
score
100.0
distance
50.168358
seq distance
984
chain
A
In LQT3; dbSNP:rs28937317.
original residue
N
variation residue
S
position
1325
score
100.0
distance
50.168358
seq distance
984
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473569.
original residue
A
variation residue
E
position
413
score
100.0
distance
50.201405
seq distance
72
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473110.
original residue
A
variation residue
T
position
413
score
100.0
distance
50.201405
seq distance
72
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473569.
original residue
A
variation residue
E
position
413
score
100.0
distance
50.201405
seq distance
72
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473110.
original residue
A
variation residue
T
position
413
score
100.0
distance
50.201405
seq distance
72
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473179.
original residue
L
variation residue
P
position
935
score
100.0
distance
50.260193
seq distance
594
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473179.
original residue
L
variation residue
P
position
935
score
100.0
distance
50.260193
seq distance
594
chain
A
In SSS1 and BRGDA1; dbSNP:rs45620037.
original residue
T
variation residue
I
position
220
score
100.0
distance
50.631527
seq distance
115
chain
A
In SSS1 and BRGDA1; dbSNP:rs45620037.
original residue
T
variation residue
I
position
220
score
100.0
distance
50.631527
seq distance
115
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473226.
original residue
I
variation residue
V
position
1334
score
100.0
distance
50.69597
seq distance
993
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473226.
original residue
I
variation residue
V
position
1334
score
100.0
distance
50.69597
seq distance
993
chain
A
In LQT3; dbSNP:rs199473314.
original residue
V
variation residue
M
position
1777
score
90.9090909090909
distance
50.702164
seq distance
1436
chain
A
In LQT3; dbSNP:rs199473314.
original residue
V
variation residue
M
position
1777
score
90.9090909090909
distance
50.702164
seq distance
1436
chain
A
Rare variant found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41276525.
original residue
S
variation residue
L
position
216
score
100.0
distance
50.803646
seq distance
119
chain
A
Rare variant found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41276525.
original residue
S
variation residue
L
position
216
score
100.0
distance
50.803646
seq distance
119
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473230.
original residue
L
variation residue
I
position
1346
score
100.0
distance
50.908005
seq distance
1005
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473231.
original residue
L
variation residue
P
position
1346
score
100.0
distance
50.908005
seq distance
1005
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473230.
original residue
L
variation residue
I
position
1346
score
100.0
distance
50.908005
seq distance
1005
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473231.
original residue
L
variation residue
P
position
1346
score
100.0
distance
50.908005
seq distance
1005
chain
A
In dbSNP:rs199473600.
original residue
V
variation residue
M
position
1251
score
100.0
distance
51.053307
seq distance
910
chain
A
In dbSNP:rs199473600.
original residue
V
variation residue
M
position
1251
score
100.0
distance
51.053307
seq distance
910
chain
A
In BRGDA1; dbSNP:rs199473267.
original residue
G
variation residue
S
position
1502
score
100.0
distance
51.24427
seq distance
1161
chain
A
In BRGDA1; dbSNP:rs199473267.
original residue
G
variation residue
S
position
1502
score
100.0
distance
51.24427
seq distance
1161
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473266.
original residue
L
variation residue
V
position
1501
score
100.0
distance
51.371445
seq distance
1160
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473266.
original residue
L
variation residue
V
position
1501
score
100.0
distance
51.371445
seq distance
1160
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473232.
original residue
M
variation residue
R
position
1351
score
100.0
distance
51.585495
seq distance
1010
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473232.
original residue
M
variation residue
R
position
1351
score
100.0
distance
51.585495
seq distance
1010
chain
A
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
P
position
1330
score
100.0
distance
51.761703
seq distance
989
chain
A
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
T
position
1330
score
100.0
distance
51.761703
seq distance
989
chain
A
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
P
position
1330
score
100.0
distance
51.761703
seq distance
989
chain
A
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
T
position
1330
score
100.0
distance
51.761703
seq distance
989
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473601.
original residue
W
variation residue
C
position
1271
score
100.0
distance
51.886456
seq distance
930
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473601.
original residue
W
variation residue
C
position
1271
score
100.0
distance
51.886456
seq distance
930
chain
A
In LQT3; dbSNP:rs199473256.
original residue
F
variation residue
C
position
1473
score
100.0
distance
52.001167
seq distance
1132
chain
A
In LQT3; dbSNP:rs199473256.
original residue
F
variation residue
C
position
1473
score
100.0
distance
52.001167
seq distance
1132
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473228.
original residue
F
variation residue
L
position
1344
score
100.0
distance
52.230488
seq distance
1003
chain
A
In BRGDA1; dbSNP:rs199473229.
original residue
F
variation residue
S
position
1344
score
100.0
distance
52.230488
seq distance
1003
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473228.
original residue
F
variation residue
L
position
1344
score
100.0
distance
52.230488
seq distance
1003
chain
A
In BRGDA1; dbSNP:rs199473229.
original residue
F
variation residue
S
position
1344
score
100.0
distance
52.230488
seq distance
1003
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473616.
original residue
E
variation residue
D
position
1489
score
100.0
distance
52.426365
seq distance
1148
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473616.
original residue
E
variation residue
D
position
1489
score
100.0
distance
52.426365
seq distance
1148
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473254.
original residue
V
variation residue
F
position
1468
score
100.0
distance
52.54242
seq distance
1127
chain
A
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41315493.
original residue
V
variation residue
L
position
1468
score
54.54545454545454
distance
52.54242
seq distance
1127
chain
A
In ATFB10; dbSNP:rs41315493.
original residue
V
variation residue
M
position
1468
score
54.54545454545454
distance
52.54242
seq distance
1127
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473254.
original residue
V
variation residue
F
position
1468
score
100.0
distance
52.54242
seq distance
1127
chain
A
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41315493.
original residue
V
variation residue
L
position
1468
score
54.54545454545454
distance
52.54242
seq distance
1127
chain
A
In ATFB10; dbSNP:rs41315493.
original residue
V
variation residue
M
position
1468
score
54.54545454545454
distance
52.54242
seq distance
1127
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473214.
original residue
E
variation residue
G
position
1253
score
100.0
distance
52.55912
seq distance
912
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473214.
original residue
E
variation residue
G
position
1253
score
100.0
distance
52.55912
seq distance
912
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473166.
original residue
I
variation residue
F
position
848
score
100.0
distance
52.60836
seq distance
507
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473166.
original residue
I
variation residue
F
position
848
score
100.0
distance
52.60836
seq distance
507
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473260.
original residue
K
variation residue
R
position
1493
score
100.0
distance
52.74432
seq distance
1152
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473260.
original residue
K
variation residue
R
position
1493
score
100.0
distance
52.74432
seq distance
1152
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473052.
original residue
F
variation residue
S
position
221
score
50.0
distance
52.899696
seq distance
114
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473052.
original residue
F
variation residue
S
position
221
score
50.0
distance
52.899696
seq distance
114
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473560.
original residue
V
variation residue
L
position
223
score
100.0
distance
53.210194
seq distance
112
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473560.
original residue
V
variation residue
L
position
223
score
100.0
distance
53.210194
seq distance
112
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473255.
original residue
N
variation residue
S
position
1472
score
100.0
distance
53.994396
seq distance
1131
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473255.
original residue
N
variation residue
S
position
1472
score
100.0
distance
53.994396
seq distance
1131
chain
A
In dbSNP:rs199473265.
original residue
K
variation residue
N
position
1500
score
100.0
distance
54.059494
seq distance
1159
chain
A
In BRGDA1.
original residue
variation residue
position
1500
score
100.0
distance
54.059494
seq distance
1159
chain
A
In dbSNP:rs199473265.
original residue
K
variation residue
N
position
1500
score
100.0
distance
54.059494
seq distance
1159
chain
A
In BRGDA1.
original residue
variation residue
position
1500
score
100.0
distance
54.059494
seq distance
1159
chain
A
In BRGDA1; dbSNP:rs137854611.
original residue
A
variation residue
E
position
735
score
100.0
distance
54.184998
seq distance
394
chain
A
In BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs137854611.
original residue
A
variation residue
V
position
735
score
100.0
distance
54.184998
seq distance
394
chain
A
In BRGDA1; dbSNP:rs137854611.
original residue
A
variation residue
E
position
735
score
100.0
distance
54.184998
seq distance
394
chain
A
In BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs137854611.
original residue
A
variation residue
V
position
735
score
100.0
distance
54.184998
seq distance
394
chain
A
In LQT3 and SIDS; dbSNP:rs199473604.
original residue
S
variation residue
Y
position
1333
score
100.0
distance
54.221394
seq distance
992
chain
A
In LQT3 and SIDS; dbSNP:rs199473604.
original residue
S
variation residue
Y
position
1333
score
100.0
distance
54.221394
seq distance
992
chain
A
In LQT3; dbSNP:rs199473077.
original residue
Q
variation residue
K
position
245
score
100.0
distance
54.64404
seq distance
90
chain
A
In LQT3; dbSNP:rs199473077.
original residue
Q
variation residue
K
position
245
score
100.0
distance
54.64404
seq distance
90
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473269.
original residue
V
variation residue
M
position
1525
score
100.0
distance
54.730038
seq distance
1184
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473269.
original residue
V
variation residue
M
position
1525
score
100.0
distance
54.730038
seq distance
1184
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473225.
original residue
P
variation residue
L
position
1332
score
100.0
distance
54.807377
seq distance
991
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473225.
original residue
P
variation residue
L
position
1332
score
100.0
distance
54.807377
seq distance
991
chain
A
Phosphoserine; by PKC
position
1503
score
100.0
distance
55.0342
seq distance
1162
chain
A
Phosphoserine; by PKC
position
1503
score
100.0
distance
55.0342
seq distance
1162
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473634.
original residue
T
variation residue
M
position
1779
score
72.72727272727273
distance
55.127705
seq distance
1438
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473634.
original residue
T
variation residue
M
position
1779
score
72.72727272727273
distance
55.127705
seq distance
1438
chain
A
In BRGDA1 and LQT3; dbSNP:rs45546039.
original residue
R
variation residue
Q
position
222
score
100.0
distance
55.329803
seq distance
113
chain
A
In BRGDA1 and LQT3; dbSNP:rs45546039.
original residue
R
variation residue
Q
position
222
score
100.0
distance
55.329803
seq distance
113
chain
A
Phosphoserine
position
805
score
59.09090909090909
distance
55.49895
seq distance
464
chain
A
Phosphoserine
position
805
score
59.09090909090909
distance
55.49895
seq distance
464
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473076.
original residue
V
variation residue
M
position
240
score
100.0
distance
55.794224
seq distance
95
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473076.
original residue
V
variation residue
M
position
240
score
100.0
distance
55.794224
seq distance
95
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs45514691.
original residue
R
variation residue
C
position
1583
score
100.0
distance
55.927845
seq distance
1242
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473621.
original residue
R
variation residue
H
position
1583
score
100.0
distance
55.927845
seq distance
1242
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs45514691.
original residue
R
variation residue
C
position
1583
score
100.0
distance
55.927845
seq distance
1242
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473621.
original residue
R
variation residue
H
position
1583
score
100.0
distance
55.927845
seq distance
1242
chain
A
Induces accelerated recovery from channel fast inactivation.
original residue
Q
variation residue
K
position
1476
score
100.0
distance
56.03166
seq distance
1135
chain
A
Induces accelerated recovery from channel fast inactivation.
original residue
Q
variation residue
K
position
1476
score
100.0
distance
56.03166
seq distance
1135
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473275.
original residue
L
variation residue
P
position
1582
score
100.0
distance
56.03809
seq distance
1241
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473275.
original residue
L
variation residue
P
position
1582
score
100.0
distance
56.03809
seq distance
1241
chain
A
In BRGDA1; dbSNP:rs199473561.
original residue
A
variation residue
V
position
226
score
100.0
distance
56.68075
seq distance
109
chain
A
In BRGDA1; dbSNP:rs199473561.
original residue
A
variation residue
V
position
226
score
100.0
distance
56.68075
seq distance
109
chain
A
In LQT3.
original residue
variation residue
begin
1505
end
1507
score
100.0
distance
56.83537
seq distance
1164
chain
A
In LQT3.
original residue
variation residue
begin
1505
end
1507
score
100.0
distance
56.83537
seq distance
1164
chain
A
In BRGDA1; asymptomatic patient; associated with P-1569; dbSNP:rs199473270.
original residue
K
variation residue
R
position
1527
score
100.0
distance
56.976585
seq distance
1186
chain
A
In BRGDA1; asymptomatic patient; associated with P-1569; dbSNP:rs199473270.
original residue
K
variation residue
R
position
1527
score
100.0
distance
56.976585
seq distance
1186
chain
A
In LQT3; dbSNP:rs199473070.
original residue
L
variation residue
P
position
212
score
100.0
distance
57.158894
seq distance
123
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473070.
original residue
L
variation residue
Q
position
212
score
100.0
distance
57.158894
seq distance
123
chain
A
In LQT3; dbSNP:rs199473070.
original residue
L
variation residue
P
position
212
score
100.0
distance
57.158894
seq distance
123
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473070.
original residue
L
variation residue
Q
position
212
score
100.0
distance
57.158894
seq distance
123
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473056.
original residue
N
variation residue
K
position
1269
score
54.54545454545454
distance
57.253887
seq distance
928
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473056.
original residue
N
variation residue
K
position
1269
score
54.54545454545454
distance
57.253887
seq distance
928
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473061.
original residue
V
variation residue
M
position
146
score
100.0
distance
57.579422
seq distance
189
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473061.
original residue
V
variation residue
M
position
146
score
100.0
distance
57.579422
seq distance
189
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473268.
original residue
K
variation residue
N
position
1505
score
100.0
distance
57.86091
seq distance
1164
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473268.
original residue
K
variation residue
N
position
1505
score
100.0
distance
57.86091
seq distance
1164
chain
A
In LQT3; also in SIDS; dbSNP:rs137854605.
original residue
S
variation residue
N
position
941
score
81.81818181818183
distance
58.147926
seq distance
600
chain
A
In LQT3; also in SIDS; dbSNP:rs137854605.
original residue
S
variation residue
N
position
941
score
81.81818181818183
distance
58.147926
seq distance
600
chain
A
In LQT3; dbSNP:rs199473071.
original residue
R
variation residue
Q
position
225
score
100.0
distance
58.209976
seq distance
110
chain
A
In PFHB1A, BRGDA1 and LQT3; dbSNP:rs199473072.
original residue
R
variation residue
W
position
225
score
100.0
distance
58.209976
seq distance
110
chain
A
In LQT3; dbSNP:rs199473071.
original residue
R
variation residue
Q
position
225
score
100.0
distance
58.209976
seq distance
110
chain
A
In PFHB1A, BRGDA1 and LQT3; dbSNP:rs199473072.
original residue
R
variation residue
W
position
225
score
100.0
distance
58.209976
seq distance
110
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473617.
original residue
I
variation residue
K
position
1521
score
100.0
distance
58.419285
seq distance
1180
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473617.
original residue
I
variation residue
K
position
1521
score
100.0
distance
58.419285
seq distance
1180
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473164.
original residue
L
variation residue
P
position
839
score
100.0
distance
58.76057
seq distance
498
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473164.
original residue
L
variation residue
P
position
839
score
100.0
distance
58.76057
seq distance
498
chain
A
In BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no domiFalset negative effect.
original residue
L
variation residue
Q
position
812
score
100.0
distance
58.974277
seq distance
471
chain
A
In BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no domiFalset negative effect.
original residue
L
variation residue
Q
position
812
score
100.0
distance
58.974277
seq distance
471
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473160.
original residue
R
variation residue
P
position
808
score
100.0
distance
59.01369
seq distance
467
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473160.
original residue
R
variation residue
P
position
808
score
100.0
distance
59.01369
seq distance
467
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473150.
original residue
T
variation residue
I
position
731
score
100.0
distance
59.13265
seq distance
390
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473150.
original residue
T
variation residue
I
position
731
score
100.0
distance
59.13265
seq distance
390
chain
A
In LQT3.
original residue
variation residue
begin
1507
end
1509
score
100.0
distance
59.221043
seq distance
1166
chain
A
In LQT3.
original residue
variation residue
begin
1507
end
1509
score
100.0
distance
59.221043
seq distance
1166
chain
A
In BRGDA1; dbSNP:rs199473074.
original residue
I
variation residue
V
position
230
score
100.0
distance
59.4176
seq distance
105
chain
A
In BRGDA1; dbSNP:rs199473074.
original residue
I
variation residue
V
position
230
score
100.0
distance
59.4176
seq distance
105
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473582.
original residue
E
variation residue
K
position
746
score
100.0
distance
59.74784
seq distance
405
chain
A
In dbSNP:rs199473193.
original residue
E
variation residue
K
position
746
score
50.0
distance
59.74784
seq distance
405
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473582.
original residue
E
variation residue
K
position
746
score
100.0
distance
59.74784
seq distance
405
chain
A
In dbSNP:rs199473193.
original residue
E
variation residue
K
position
746
score
50.0
distance
59.74784
seq distance
405
chain
A
In LQT3; dbSNP:rs199473257.
original residue
G
variation residue
E
position
1481
score
100.0
distance
60.343388
seq distance
1140
chain
A
In LQT3; dbSNP:rs199473257.
original residue
G
variation residue
E
position
1481
score
100.0
distance
60.343388
seq distance
1140
chain
A
In BRGDA1.
original residue
variation residue
position
1479
score
100.0
distance
60.619717
seq distance
1138
chain
A
In BRGDA1.
original residue
variation residue
position
1479
score
100.0
distance
60.619717
seq distance
1138
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473162.
original residue
F
variation residue
Y
position
816
score
100.0
distance
61.320198
seq distance
475
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473162.
original residue
F
variation residue
Y
position
816
score
100.0
distance
61.320198
seq distance
475
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473202.
original residue
Y
variation residue
S
position
1199
score
100.0
distance
61.64852
seq distance
858
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473202.
original residue
Y
variation residue
S
position
1199
score
100.0
distance
61.64852
seq distance
858
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473559.
original residue
A
variation residue
V
position
204
score
100.0
distance
62.087284
seq distance
131
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473559.
original residue
A
variation residue
V
position
204
score
100.0
distance
62.087284
seq distance
131
chain
A
In BRGDA1; dbSNP:rs199473584.
original residue
R
variation residue
Q
position
814
score
100.0
distance
62.946224
seq distance
473
chain
A
In BRGDA1; dbSNP:rs199473584.
original residue
R
variation residue
Q
position
814
score
100.0
distance
62.946224
seq distance
473
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473062.
original residue
E
variation residue
K
position
161
score
100.0
distance
63.445892
seq distance
174
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473062.
original residue
E
variation residue
Q
position
161
score
100.0
distance
63.445892
seq distance
174
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473062.
original residue
E
variation residue
K
position
161
score
100.0
distance
63.445892
seq distance
174
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473062.
original residue
E
variation residue
Q
position
161
score
100.0
distance
63.445892
seq distance
174
chain
A
In BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke; dbSNP:rs137854602.
original residue
R
variation residue
W
position
1512
score
100.0
distance
63.518616
seq distance
1171
chain
A
In BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke; dbSNP:rs137854602.
original residue
R
variation residue
W
position
1512
score
100.0
distance
63.518616
seq distance
1171
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473152.
original residue
Q
variation residue
R
position
750
score
100.0
distance
64.088036
seq distance
409
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473152.
original residue
Q
variation residue
R
position
750
score
100.0
distance
64.088036
seq distance
409
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs137854616.
original residue
G
variation residue
S
position
1262
score
100.0
distance
64.23597
seq distance
921
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs137854616.
original residue
G
variation residue
S
position
1262
score
100.0
distance
64.23597
seq distance
921
chain
A
In BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation.
original residue
K
variation residue
E
position
817
score
100.0
distance
64.772026
seq distance
476
chain
A
In BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation.
original residue
K
variation residue
E
position
817
score
100.0
distance
64.772026
seq distance
476
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs45471994.
original residue
V
variation residue
I
position
232
score
100.0
distance
65.23948
seq distance
103
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs45471994.
original residue
V
variation residue
I
position
232
score
100.0
distance
65.23948
seq distance
103
chain
A
In ATFB10; dbSNP:rs199473060.
original residue
M
variation residue
I
position
138
score
100.0
distance
65.4425
seq distance
197
chain
A
In ATFB10; dbSNP:rs199473060.
original residue
M
variation residue
I
position
138
score
100.0
distance
65.4425
seq distance
197
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473153.
original residue
G
variation residue
R
position
752
score
100.0
distance
65.920105
seq distance
411
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473153.
original residue
G
variation residue
R
position
752
score
100.0
distance
65.920105
seq distance
411
chain
A
In dbSNP:rs199473125.
original residue
R
variation residue
H
position
1195
score
50.0
distance
66.29588
seq distance
854
chain
A
In dbSNP:rs199473125.
original residue
R
variation residue
H
position
1195
score
50.0
distance
66.29588
seq distance
854
chain
A
In BRGDA1; dbSNP:rs199473124.
original residue
L
variation residue
Q
position
1194
score
50.0
distance
67.57936
seq distance
853
chain
A
In BRGDA1; dbSNP:rs199473124.
original residue
L
variation residue
Q
position
1194
score
50.0
distance
67.57936
seq distance
853
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473557.
original residue
L
variation residue
P
position
136
score
100.0
distance
70.38433
seq distance
199
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473557.
original residue
L
variation residue
P
position
136
score
100.0
distance
70.38433
seq distance
199
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473159.
original residue
V
variation residue
I
position
789
score
100.0
distance
70.534256
seq distance
448
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473159.
original residue
V
variation residue
I
position
789
score
100.0
distance
70.534256
seq distance
448
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
G
position
1193
score
50.0
distance
70.62633
seq distance
852
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473554.
original residue
R
variation residue
Q
position
1193
score
50.0
distance
70.62633
seq distance
852
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
W
position
1193
score
50.0
distance
70.62633
seq distance
852
chain
A
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344.
original residue
R
variation residue
Q
position
1193
score
100.0
distance
70.62633
seq distance
852
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
G
position
1193
score
50.0
distance
70.62633
seq distance
852
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473554.
original residue
R
variation residue
Q
position
1193
score
50.0
distance
70.62633
seq distance
852
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
W
position
1193
score
50.0
distance
70.62633
seq distance
852
chain
A
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344.
original residue
R
variation residue
Q
position
1193
score
100.0
distance
70.62633
seq distance
852
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs137854606.
original residue
G
variation residue
C
position
797
score
50.0
distance
71.44266
seq distance
456
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs137854606.
original residue
G
variation residue
C
position
797
score
50.0
distance
71.44266
seq distance
456
chain
A
In ATFB10; dbSNP:rs199473111.
original residue
E
variation residue
K
position
428
score
63.63636363636363
distance
72.12863
seq distance
87
chain
A
In ATFB10; dbSNP:rs199473111.
original residue
E
variation residue
K
position
428
score
63.63636363636363
distance
72.12863
seq distance
87
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473067.
original residue
A
variation residue
V
position
185
score
100.0
distance
72.17708
seq distance
150
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473067.
original residue
A
variation residue
V
position
185
score
100.0
distance
72.17708
seq distance
150
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473063.
original residue
K
variation residue
N
position
175
score
100.0
distance
73.01523
seq distance
160
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473063.
original residue
K
variation residue
N
position
175
score
100.0
distance
73.01523
seq distance
160
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473154.
original residue
G
variation residue
E
position
758
score
100.0
distance
73.31318
seq distance
417
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473154.
original residue
G
variation residue
E
position
758
score
100.0
distance
73.31318
seq distance
417
chain
A
In BRGDA1; loss of function; dbSNP:rs199473558.
original residue
T
variation residue
I
position
187
score
100.0
distance
73.754776
seq distance
148
chain
A
In BRGDA1; loss of function; dbSNP:rs199473558.
original residue
T
variation residue
I
position
187
score
100.0
distance
73.754776
seq distance
148
chain
A
In LQT3; unknown pathological significance; dbSNP:rs761375502.
original residue
variation residue
position
429
score
54.54545454545454
distance
74.884155
seq distance
88
chain
A
In LQT3; unknown pathological significance; dbSNP:rs761375502.
original residue
variation residue
position
429
score
54.54545454545454
distance
74.884155
seq distance
88
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473149.
original residue
P
variation residue
L
position
717
score
100.0
distance
76.53391
seq distance
376
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473149.
original residue
P
variation residue
L
position
717
score
100.0
distance
76.53391
seq distance
376
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473156.
original residue
M
variation residue
R
position
764
score
100.0
distance
76.535576
seq distance
423
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473156.
original residue
M
variation residue
R
position
764
score
100.0
distance
76.535576
seq distance
423
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473065.
original residue
A
variation residue
G
position
178
score
100.0
distance
77.80081
seq distance
157
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473065.
original residue
A
variation residue
G
position
178
score
100.0
distance
77.80081
seq distance
157
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473066.
original residue
C
variation residue
R
position
182
score
100.0
distance
77.91583
seq distance
153
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473066.
original residue
C
variation residue
R
position
182
score
100.0
distance
77.91583
seq distance
153
chain
A
In LQT3; dbSNP:rs199473059.
original residue
V
variation residue
L
position
125
score
100.0
distance
79.99321
seq distance
210
chain
A
In LQT3; dbSNP:rs199473059.
original residue
V
variation residue
L
position
125
score
100.0
distance
79.99321
seq distance
210
chain
A
In BRGDA1; dbSNP:rs185492581.
original residue
K
variation residue
E
position
126
score
100.0
distance
81.555504
seq distance
209
chain
A
In BRGDA1; dbSNP:rs185492581.
original residue
K
variation residue
E
position
126
score
100.0
distance
81.555504
seq distance
209
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473158.
original residue
P
variation residue
S
position
773
score
100.0
distance
82.93902
seq distance
432
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473158.
original residue
P
variation residue
S
position
773
score
100.0
distance
82.93902
seq distance
432
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473058.
original residue
R
variation residue
Q
position
121
score
72.72727272727273
distance
83.71939
seq distance
214
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473556.
original residue
R
variation residue
W
position
121
score
72.72727272727273
distance
83.71939
seq distance
214
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473058.
original residue
R
variation residue
Q
position
121
score
72.72727272727273
distance
83.71939
seq distance
214
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473556.
original residue
R
variation residue
W
position
121
score
72.72727272727273
distance
83.71939
seq distance
214
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473157.
original residue
D
variation residue
N
position
772
score
100.0
distance
86.00652
seq distance
431
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473157.
original residue
D
variation residue
N
position
772
score
100.0
distance
86.00652
seq distance
431
chain
A
In dbSNP:rs199473148.
original residue
S
variation residue
F
position
705
score
100.0
distance
94.36592
seq distance
364
chain
A
In dbSNP:rs199473148.
original residue
S
variation residue
F
position
705
score
100.0
distance
94.36592
seq distance
364
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473147.
original residue
P
variation residue
L
position
701
score
72.72727272727273
distance
98.9459
seq distance
360
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473147.
original residue
P
variation residue
L
position
701
score
72.72727272727273
distance
98.9459
seq distance
360
chain
A

Details

Redox score
76.79
PDB code
7dtc
Structure name
voltage-gated sodium channel nav1.5-e1784k
Structure deposition date
2021-01-04
Thiol separation (Å)
2.05
Half-sphere exposure sum
64
Minimum pKa
nan
% buried
nan
Peptide accession
Q14524
Residue number A
335
Residue number B
341
Peptide name
Sodium channel protein type 5 subunit alpha
A redox-regulated disulphide may form within Sodium channel protein type 5 subunit alpha at these cysteines.

Relevent regions

In BRGDA1; unknown pathological significance; dbSNP:rs199473588.
original residue
C
variation residue
R
position
915
score
100.0
distance
2.756858
seq distance
0
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473588.
original residue
C
variation residue
R
position
915
score
100.0
distance
2.756858
seq distance
0
chain
B
In BRGDA1; dbSNP:rs199473175.
original residue
S
variation residue
L
position
910
score
100.0
distance
5.52594
seq distance
4
chain
B
In BRGDA1; dbSNP:rs199473175.
original residue
S
variation residue
L
position
910
score
100.0
distance
5.52594
seq distance
4
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473176.
original residue
L
variation residue
R
position
917
score
100.0
distance
7.6537733
seq distance
2
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473176.
original residue
L
variation residue
R
position
917
score
100.0
distance
7.6537733
seq distance
2
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473174.
original residue
E
variation residue
K
position
901
score
100.0
distance
9.572499
seq distance
5
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473174.
original residue
E
variation residue
K
position
901
score
100.0
distance
9.572499
seq distance
5
chain
B
In LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation; dbSNP:rs794728898.
original residue
H
variation residue
R
position
880
score
50.0
distance
9.6232395
seq distance
26
chain
B
In LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation; dbSNP:rs794728898.
original residue
H
variation residue
R
position
880
score
50.0
distance
9.6232395
seq distance
26
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473095.
original residue
G
variation residue
D
position
351
score
100.0
distance
13.523998
seq distance
555
chain
B
In BRGDA1; 7-fold current reduction; dbSNP:rs199473095.
original residue
G
variation residue
V
position
351
score
100.0
distance
13.523998
seq distance
555
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473095.
original residue
G
variation residue
D
position
351
score
100.0
distance
13.523998
seq distance
555
chain
B
In BRGDA1; 7-fold current reduction; dbSNP:rs199473095.
original residue
G
variation residue
V
position
351
score
100.0
distance
13.523998
seq distance
555
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473169.
original residue
H
variation residue
P
position
886
score
100.0
distance
13.670529
seq distance
20
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473169.
original residue
H
variation residue
P
position
886
score
100.0
distance
13.670529
seq distance
20
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473171.
original residue
R
variation residue
C
position
893
score
100.0
distance
14.011289
seq distance
13
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473172.
original residue
R
variation residue
H
position
893
score
100.0
distance
14.011289
seq distance
13
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473171.
original residue
R
variation residue
C
position
893
score
100.0
distance
14.011289
seq distance
13
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473172.
original residue
R
variation residue
H
position
893
score
100.0
distance
14.011289
seq distance
13
chain
B
In BRGDA1; dbSNP:rs199473096.
original residue
T
variation residue
I
position
353
score
100.0
distance
14.460914
seq distance
553
chain
B
In BRGDA1; dbSNP:rs199473096.
original residue
T
variation residue
I
position
353
score
100.0
distance
14.460914
seq distance
553
chain
B
In BRGDA1; dbSNP:rs199473168.
original residue
R
variation residue
C
position
878
score
100.0
distance
14.471834
seq distance
28
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473587.
original residue
R
variation residue
H
position
878
score
100.0
distance
14.471834
seq distance
28
chain
B
In BRGDA1; dbSNP:rs199473168.
original residue
R
variation residue
C
position
878
score
100.0
distance
14.471834
seq distance
28
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473587.
original residue
R
variation residue
H
position
878
score
100.0
distance
14.471834
seq distance
28
chain
B
In BRGDA1 and LQT3; express no current; dbSNP:rs199473097.
original residue
R
variation residue
C
position
367
score
100.0
distance
14.691608
seq distance
539
chain
B
In BRGDA1; express no current; dbSNP:rs28937318.
original residue
R
variation residue
H
position
367
score
100.0
distance
14.691608
seq distance
539
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs28937318.
original residue
R
variation residue
L
position
367
score
100.0
distance
14.691608
seq distance
539
chain
B
In BRGDA1 and LQT3; express no current; dbSNP:rs199473097.
original residue
R
variation residue
C
position
367
score
100.0
distance
14.691608
seq distance
539
chain
B
In BRGDA1; express no current; dbSNP:rs28937318.
original residue
R
variation residue
H
position
367
score
100.0
distance
14.691608
seq distance
539
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs28937318.
original residue
R
variation residue
L
position
367
score
100.0
distance
14.691608
seq distance
539
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473167.
original residue
E
variation residue
Q
position
867
score
100.0
distance
15.0004835
seq distance
39
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473167.
original residue
E
variation residue
Q
position
867
score
100.0
distance
15.0004835
seq distance
39
chain
B
In dbSNP:rs199473177.
original residue
V
variation residue
I
position
924
score
100.0
distance
15.168403
seq distance
9
chain
B
In dbSNP:rs199473177.
original residue
V
variation residue
I
position
924
score
100.0
distance
15.168403
seq distance
9
chain
B
In BRGDA1; dbSNP:rs199473170.
original residue
F
variation residue
I
position
892
score
100.0
distance
15.187443
seq distance
14
chain
B
In BRGDA1; dbSNP:rs199473170.
original residue
F
variation residue
I
position
892
score
100.0
distance
15.187443
seq distance
14
chain
B
In SSS1 and BRGDA1; dbSNP:rs45620037.
original residue
T
variation residue
I
position
220
score
100.0
distance
15.925435
seq distance
686
chain
B
In SSS1 and BRGDA1; dbSNP:rs45620037.
original residue
T
variation residue
I
position
220
score
100.0
distance
15.925435
seq distance
686
chain
B
In BRGDA1; dbSNP:rs199473586.
original residue
F
variation residue
L
position
851
score
100.0
distance
17.244848
seq distance
55
chain
B
In BRGDA1; dbSNP:rs199473586.
original residue
F
variation residue
L
position
851
score
100.0
distance
17.244848
seq distance
55
chain
B
In BRGDA1; dbSNP:rs199473173.
original residue
C
variation residue
S
position
896
score
100.0
distance
17.328857
seq distance
10
chain
B
In BRGDA1; dbSNP:rs199473173.
original residue
C
variation residue
S
position
896
score
100.0
distance
17.328857
seq distance
10
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473099.
original residue
T
variation residue
M
position
370
score
100.0
distance
17.653841
seq distance
536
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473099.
original residue
T
variation residue
M
position
370
score
100.0
distance
17.653841
seq distance
536
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473589.
original residue
N
variation residue
S
position
927
score
100.0
distance
17.936
seq distance
12
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473589.
original residue
N
variation residue
S
position
927
score
100.0
distance
17.936
seq distance
12
chain
B
Rare variant found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41276525.
original residue
S
variation residue
L
position
216
score
100.0
distance
17.938976
seq distance
690
chain
B
Rare variant found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41276525.
original residue
S
variation residue
L
position
216
score
100.0
distance
17.938976
seq distance
690
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473052.
original residue
F
variation residue
S
position
221
score
50.0
distance
18.423758
seq distance
685
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473052.
original residue
F
variation residue
S
position
221
score
50.0
distance
18.423758
seq distance
685
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473566.
original residue
W
variation residue
G
position
374
score
100.0
distance
18.901438
seq distance
532
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473566.
original residue
W
variation residue
G
position
374
score
100.0
distance
18.901438
seq distance
532
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473560.
original residue
V
variation residue
L
position
223
score
100.0
distance
18.953302
seq distance
683
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473560.
original residue
V
variation residue
L
position
223
score
100.0
distance
18.953302
seq distance
683
chain
B
In BRGDA1; dbSNP:rs199473098.
original residue
M
variation residue
K
position
369
score
100.0
distance
19.39147
seq distance
537
chain
B
In BRGDA1; dbSNP:rs199473098.
original residue
M
variation residue
K
position
369
score
100.0
distance
19.39147
seq distance
537
chain
B
In dbSNP:rs199473100.
original residue
R
variation residue
C
position
376
score
100.0
distance
19.647425
seq distance
530
chain
B
In BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation; dbSNP:rs199473101.
original residue
R
variation residue
H
position
376
score
100.0
distance
19.647425
seq distance
530
chain
B
In dbSNP:rs199473100.
original residue
R
variation residue
C
position
376
score
100.0
distance
19.647425
seq distance
530
chain
B
In BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation; dbSNP:rs199473101.
original residue
R
variation residue
H
position
376
score
100.0
distance
19.647425
seq distance
530
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473178.
original residue
L
variation residue
P
position
928
score
100.0
distance
20.39066
seq distance
13
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473178.
original residue
L
variation residue
P
position
928
score
100.0
distance
20.39066
seq distance
13
chain
B
In BRGDA1 and LQT3; dbSNP:rs45546039.
original residue
R
variation residue
Q
position
222
score
100.0
distance
20.648151
seq distance
684
chain
B
In BRGDA1 and LQT3; dbSNP:rs45546039.
original residue
R
variation residue
Q
position
222
score
100.0
distance
20.648151
seq distance
684
chain
B
In BRGDA1; loss of function; dbSNP:rs199473565.
original residue
D
variation residue
N
position
356
score
100.0
distance
20.954418
seq distance
550
chain
B
In BRGDA1; loss of function; dbSNP:rs199473565.
original residue
D
variation residue
N
position
356
score
100.0
distance
20.954418
seq distance
550
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473166.
original residue
I
variation residue
F
position
848
score
100.0
distance
21.281435
seq distance
58
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473166.
original residue
I
variation residue
F
position
848
score
100.0
distance
21.281435
seq distance
58
chain
B
In BRGDA1; dbSNP:rs199473561.
original residue
A
variation residue
V
position
226
score
100.0
distance
22.215885
seq distance
680
chain
B
In BRGDA1; dbSNP:rs199473561.
original residue
A
variation residue
V
position
226
score
100.0
distance
22.215885
seq distance
680
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473252.
original residue
V
variation residue
D
position
1451
score
100.0
distance
22.629581
seq distance
536
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473252.
original residue
V
variation residue
D
position
1451
score
100.0
distance
22.629581
seq distance
536
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473242.
original residue
K
variation residue
E
position
1419
score
100.0
distance
22.75069
seq distance
504
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473242.
original residue
K
variation residue
E
position
1419
score
100.0
distance
22.75069
seq distance
504
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473081.
original residue
L
variation residue
Q
position
276
score
100.0
distance
22.85493
seq distance
630
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473081.
original residue
L
variation residue
Q
position
276
score
100.0
distance
22.85493
seq distance
630
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473249.
original residue
E
variation residue
Q
position
1441
score
100.0
distance
22.892115
seq distance
526
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473249.
original residue
E
variation residue
Q
position
1441
score
100.0
distance
22.892115
seq distance
526
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473611.
original residue
G
variation residue
R
position
1420
score
100.0
distance
23.426247
seq distance
505
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473611.
original residue
G
variation residue
R
position
1420
score
100.0
distance
23.426247
seq distance
505
chain
B
In LQT3; dbSNP:rs199473071.
original residue
R
variation residue
Q
position
225
score
100.0
distance
23.449713
seq distance
681
chain
B
In PFHB1A, BRGDA1 and LQT3; dbSNP:rs199473072.
original residue
R
variation residue
W
position
225
score
100.0
distance
23.449713
seq distance
681
chain
B
In LQT3; dbSNP:rs199473071.
original residue
R
variation residue
Q
position
225
score
100.0
distance
23.449713
seq distance
681
chain
B
In PFHB1A, BRGDA1 and LQT3; dbSNP:rs199473072.
original residue
R
variation residue
W
position
225
score
100.0
distance
23.449713
seq distance
681
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473250.
original residue
I
variation residue
L
position
1448
score
100.0
distance
23.53299
seq distance
533
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473251.
original residue
I
variation residue
T
position
1448
score
100.0
distance
23.53299
seq distance
533
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473250.
original residue
I
variation residue
L
position
1448
score
100.0
distance
23.53299
seq distance
533
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473251.
original residue
I
variation residue
T
position
1448
score
100.0
distance
23.53299
seq distance
533
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473091.
original residue
T
variation residue
N
position
320
score
100.0
distance
24.025562
seq distance
586
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473091.
original residue
T
variation residue
N
position
320
score
100.0
distance
24.025562
seq distance
586
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473061.
original residue
V
variation residue
M
position
146
score
100.0
distance
24.037739
seq distance
760
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473061.
original residue
V
variation residue
M
position
146
score
100.0
distance
24.037739
seq distance
760
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473298.
original residue
G
variation residue
S
position
1712
score
100.0
distance
24.103138
seq distance
797
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473298.
original residue
G
variation residue
S
position
1712
score
100.0
distance
24.103138
seq distance
797
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473078.
original residue
V
variation residue
L
position
247
score
100.0
distance
24.635977
seq distance
659
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473078.
original residue
V
variation residue
L
position
247
score
100.0
distance
24.635977
seq distance
659
chain
B
In LQT3; dbSNP:rs199473107.
original residue
L
variation residue
Q
position
404
score
100.0
distance
25.542078
seq distance
502
chain
B
In LQT3; dbSNP:rs199473107.
original residue
L
variation residue
Q
position
404
score
100.0
distance
25.542078
seq distance
502
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473080.
original residue
N
variation residue
K
position
275
score
100.0
distance
25.651531
seq distance
631
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473080.
original residue
N
variation residue
K
position
275
score
100.0
distance
25.651531
seq distance
631
chain
B
In LQT3; dbSNP:rs199473070.
original residue
L
variation residue
P
position
212
score
100.0
distance
25.725039
seq distance
694
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473070.
original residue
L
variation residue
Q
position
212
score
100.0
distance
25.725039
seq distance
694
chain
B
In LQT3; dbSNP:rs199473070.
original residue
L
variation residue
P
position
212
score
100.0
distance
25.725039
seq distance
694
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473070.
original residue
L
variation residue
Q
position
212
score
100.0
distance
25.725039
seq distance
694
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473244.
original residue
A
variation residue
S
position
1427
score
100.0
distance
25.745111
seq distance
512
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473244.
original residue
A
variation residue
S
position
1427
score
100.0
distance
25.745111
seq distance
512
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473105.
original residue
I
variation residue
T
position
397
score
100.0
distance
25.88648
seq distance
509
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473105.
original residue
I
variation residue
T
position
397
score
100.0
distance
25.88648
seq distance
509
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473271.
original residue
E
variation residue
K
position
1548
score
100.0
distance
25.99182
seq distance
633
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473271.
original residue
E
variation residue
K
position
1548
score
100.0
distance
25.99182
seq distance
633
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473103.
original residue
V
variation residue
A
position
396
score
100.0
distance
26.168653
seq distance
510
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473104.
original residue
V
variation residue
L
position
396
score
100.0
distance
26.168653
seq distance
510
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473103.
original residue
V
variation residue
A
position
396
score
100.0
distance
26.168653
seq distance
510
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473104.
original residue
V
variation residue
L
position
396
score
100.0
distance
26.168653
seq distance
510
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473562.
original residue
H
variation residue
D
position
278
score
100.0
distance
26.16991
seq distance
628
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473562.
original residue
H
variation residue
D
position
278
score
100.0
distance
26.16991
seq distance
628
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473612.
original residue
A
variation residue
V
position
1428
score
100.0
distance
26.284264
seq distance
513
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473612.
original residue
A
variation residue
V
position
1428
score
100.0
distance
26.284264
seq distance
513
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473613.
original residue
Y
variation residue
C
position
1449
score
100.0
distance
26.32445
seq distance
534
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473613.
original residue
Y
variation residue
C
position
1449
score
100.0
distance
26.32445
seq distance
534
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473092.
original residue
L
variation residue
R
position
325
score
100.0
distance
26.372875
seq distance
581
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473092.
original residue
L
variation residue
R
position
325
score
100.0
distance
26.372875
seq distance
581
chain
B
In VF1; dbSNP:rs137854604.
original residue
S
variation residue
L
position
1710
score
100.0
distance
26.63464
seq distance
795
chain
B
In VF1; dbSNP:rs137854604.
original residue
S
variation residue
L
position
1710
score
100.0
distance
26.63464
seq distance
795
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473076.
original residue
V
variation residue
M
position
240
score
100.0
distance
26.657763
seq distance
666
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473076.
original residue
V
variation residue
M
position
240
score
100.0
distance
26.657763
seq distance
666
chain
B
In BRGDA1; strong decrease of current density; does not affect ion selectivity properties; dbSNP:rs199473628.
original residue
D
variation residue
G
position
1714
score
100.0
distance
26.829962
seq distance
799
chain
B
In BRGDA1; strong decrease of current density; does not affect ion selectivity properties; dbSNP:rs199473628.
original residue
D
variation residue
G
position
1714
score
100.0
distance
26.829962
seq distance
799
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
M
position
1709
score
100.0
distance
26.832682
seq distance
794
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
R
position
1709
score
100.0
distance
26.832682
seq distance
794
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
M
position
1709
score
100.0
distance
26.832682
seq distance
794
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
R
position
1709
score
100.0
distance
26.832682
seq distance
794
chain
B
In BRGDA1.
original residue
variation residue
position
393
score
100.0
distance
26.934122
seq distance
513
chain
B
In BRGDA1.
original residue
variation residue
position
393
score
100.0
distance
26.934122
seq distance
513
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473109.
original residue
L
variation residue
V
position
409
score
100.0
distance
27.190369
seq distance
497
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473109.
original residue
L
variation residue
V
position
409
score
100.0
distance
27.190369
seq distance
497
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473559.
original residue
A
variation residue
V
position
204
score
100.0
distance
27.321602
seq distance
702
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473559.
original residue
A
variation residue
V
position
204
score
100.0
distance
27.321602
seq distance
702
chain
B
In LQT3; dbSNP:rs199473253.
original residue
S
variation residue
Y
position
1458
score
100.0
distance
27.417377
seq distance
543
chain
B
In LQT3; dbSNP:rs199473253.
original residue
S
variation residue
Y
position
1458
score
100.0
distance
27.417377
seq distance
543
chain
B
In BRGDA1; dbSNP:rs199473074.
original residue
I
variation residue
V
position
230
score
100.0
distance
27.45012
seq distance
676
chain
B
In BRGDA1; dbSNP:rs199473074.
original residue
I
variation residue
V
position
230
score
100.0
distance
27.45012
seq distance
676
chain
B
In LQT3; dbSNP:rs199473108.
original residue
N
variation residue
K
position
406
score
100.0
distance
27.507566
seq distance
500
chain
B
In BRGDA1; dbSNP:rs199473568.
original residue
N
variation residue
S
position
406
score
100.0
distance
27.507566
seq distance
500
chain
B
In LQT3; dbSNP:rs199473108.
original residue
N
variation residue
K
position
406
score
100.0
distance
27.507566
seq distance
500
chain
B
In BRGDA1; dbSNP:rs199473568.
original residue
N
variation residue
S
position
406
score
100.0
distance
27.507566
seq distance
500
chain
B
In LQT3; dbSNP:rs199473043.
original residue
G
variation residue
V
position
319
score
50.0
distance
27.642887
seq distance
587
chain
B
In BRGDA1; dbSNP:rs199473090.
original residue
G
variation residue
S
position
319
score
100.0
distance
27.642887
seq distance
587
chain
B
In LQT3; dbSNP:rs199473043.
original residue
G
variation residue
V
position
319
score
50.0
distance
27.642887
seq distance
587
chain
B
In BRGDA1; dbSNP:rs199473090.
original residue
G
variation residue
S
position
319
score
100.0
distance
27.642887
seq distance
587
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473564.
original residue
L
variation residue
P
position
315
score
100.0
distance
28.316729
seq distance
591
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473564.
original residue
L
variation residue
P
position
315
score
100.0
distance
28.316729
seq distance
591
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473062.
original residue
E
variation residue
K
position
161
score
100.0
distance
28.61203
seq distance
745
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473062.
original residue
E
variation residue
Q
position
161
score
100.0
distance
28.61203
seq distance
745
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473062.
original residue
E
variation residue
K
position
161
score
100.0
distance
28.61203
seq distance
745
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473062.
original residue
E
variation residue
Q
position
161
score
100.0
distance
28.61203
seq distance
745
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473079.
original residue
Q
variation residue
K
position
270
score
100.0
distance
28.63222
seq distance
636
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473079.
original residue
Q
variation residue
K
position
270
score
100.0
distance
28.63222
seq distance
636
chain
B
In LQT3; dbSNP:rs199473077.
original residue
Q
variation residue
K
position
245
score
100.0
distance
29.15999
seq distance
661
chain
B
In LQT3; dbSNP:rs199473077.
original residue
Q
variation residue
K
position
245
score
100.0
distance
29.15999
seq distance
661
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473248.
original residue
P
variation residue
L
position
1438
score
100.0
distance
29.318928
seq distance
523
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473248.
original residue
P
variation residue
L
position
1438
score
100.0
distance
29.318928
seq distance
523
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473179.
original residue
L
variation residue
P
position
935
score
100.0
distance
29.74246
seq distance
20
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473179.
original residue
L
variation residue
P
position
935
score
100.0
distance
29.74246
seq distance
20
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473241.
original residue
L
variation residue
F
position
1412
score
100.0
distance
29.93436
seq distance
497
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473241.
original residue
L
variation residue
F
position
1412
score
100.0
distance
29.93436
seq distance
497
chain
B
In LQT3; dbSNP:rs72549410.
original residue
V
variation residue
M
position
411
score
100.0
distance
30.158865
seq distance
495
chain
B
In LQT3; dbSNP:rs72549410.
original residue
V
variation residue
M
position
411
score
100.0
distance
30.158865
seq distance
495
chain
B
In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation; dbSNP:rs199473627.
original residue
F
variation residue
S
position
1705
score
100.0
distance
30.89779
seq distance
790
chain
B
In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation; dbSNP:rs199473627.
original residue
F
variation residue
S
position
1705
score
100.0
distance
30.89779
seq distance
790
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473569.
original residue
A
variation residue
E
position
413
score
100.0
distance
31.146538
seq distance
493
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473110.
original residue
A
variation residue
T
position
413
score
100.0
distance
31.146538
seq distance
493
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473569.
original residue
A
variation residue
E
position
413
score
100.0
distance
31.146538
seq distance
493
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473110.
original residue
A
variation residue
T
position
413
score
100.0
distance
31.146538
seq distance
493
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473614.
original residue
N
variation residue
Y
position
1463
score
100.0
distance
31.341623
seq distance
548
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473614.
original residue
N
variation residue
Y
position
1463
score
100.0
distance
31.341623
seq distance
548
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473045.
original residue
R
variation residue
H
position
1432
score
54.54545454545454
distance
31.406103
seq distance
517
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473245.
original residue
R
variation residue
G
position
1432
score
100.0
distance
31.406103
seq distance
517
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473246.
original residue
R
variation residue
S
position
1432
score
100.0
distance
31.406103
seq distance
517
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473045.
original residue
R
variation residue
H
position
1432
score
54.54545454545454
distance
31.406103
seq distance
517
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473245.
original residue
R
variation residue
G
position
1432
score
100.0
distance
31.406103
seq distance
517
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473246.
original residue
R
variation residue
S
position
1432
score
100.0
distance
31.406103
seq distance
517
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473236.
original residue
F
variation residue
C
position
1360
score
100.0
distance
31.72639
seq distance
445
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473236.
original residue
F
variation residue
C
position
1360
score
100.0
distance
31.72639
seq distance
445
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473567.
original residue
G
variation residue
E
position
386
score
100.0
distance
31.94906
seq distance
520
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473102.
original residue
G
variation residue
R
position
386
score
100.0
distance
31.94906
seq distance
520
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473567.
original residue
G
variation residue
E
position
386
score
100.0
distance
31.94906
seq distance
520
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473102.
original residue
G
variation residue
R
position
386
score
100.0
distance
31.94906
seq distance
520
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45471994.
original residue
V
variation residue
I
position
232
score
100.0
distance
32.04562
seq distance
674
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45471994.
original residue
V
variation residue
I
position
232
score
100.0
distance
32.04562
seq distance
674
chain
B
In ATFB10; dbSNP:rs199473060.
original residue
M
variation residue
I
position
138
score
100.0
distance
32.09803
seq distance
768
chain
B
In ATFB10; dbSNP:rs199473060.
original residue
M
variation residue
I
position
138
score
100.0
distance
32.09803
seq distance
768
chain
B
In LQT3; dbSNP:rs199473631.
original residue
V
variation residue
M
position
1763
score
100.0
distance
32.300064
seq distance
848
chain
B
In LQT3; dbSNP:rs199473631.
original residue
V
variation residue
M
position
1763
score
100.0
distance
32.300064
seq distance
848
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473632.
original residue
Y
variation residue
C
position
1767
score
100.0
distance
32.783974
seq distance
852
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473632.
original residue
Y
variation residue
C
position
1767
score
100.0
distance
32.783974
seq distance
852
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473164.
original residue
L
variation residue
P
position
839
score
100.0
distance
33.040634
seq distance
67
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473164.
original residue
L
variation residue
P
position
839
score
100.0
distance
33.040634
seq distance
67
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473309.
original residue
V
variation residue
F
position
1764
score
100.0
distance
33.317616
seq distance
849
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473309.
original residue
V
variation residue
F
position
1764
score
100.0
distance
33.317616
seq distance
849
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473624.
original residue
G
variation residue
E
position
1642
score
100.0
distance
33.433914
seq distance
727
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473624.
original residue
G
variation residue
E
position
1642
score
100.0
distance
33.433914
seq distance
727
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473235.
original residue
K
variation residue
N
position
1359
score
100.0
distance
33.44117
seq distance
444
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473235.
original residue
K
variation residue
N
position
1359
score
100.0
distance
33.44117
seq distance
444
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; no effect on voltage dependence for activation and inactivation; dbSNP:rs1060499900.
original residue
D
variation residue
N
position
1690
score
100.0
distance
33.6587
seq distance
775
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; no effect on voltage dependence for activation and inactivation; dbSNP:rs1060499900.
original residue
D
variation residue
N
position
1690
score
100.0
distance
33.6587
seq distance
775
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473619.
original residue
L
variation residue
F
position
1560
score
100.0
distance
34.12628
seq distance
645
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473619.
original residue
L
variation residue
F
position
1560
score
100.0
distance
34.12628
seq distance
645
chain
B
In LQT3; dbSNP:rs137854600.
original residue
R
variation residue
L
position
1623
score
100.0
distance
34.19699
seq distance
708
chain
B
In LQT3 and BRGDA1; dbSNP:rs137854600.
original residue
R
variation residue
Q
position
1623
score
100.0
distance
34.19699
seq distance
708
chain
B
In LQT3; dbSNP:rs137854600.
original residue
R
variation residue
L
position
1623
score
100.0
distance
34.19699
seq distance
708
chain
B
In LQT3 and BRGDA1; dbSNP:rs137854600.
original residue
R
variation residue
Q
position
1623
score
100.0
distance
34.19699
seq distance
708
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473082.
original residue
R
variation residue
C
position
282
score
100.0
distance
34.315228
seq distance
624
chain
B
In BRGDA1; dbSNP:rs199473083.
original residue
R
variation residue
H
position
282
score
100.0
distance
34.315228
seq distance
624
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473082.
original residue
R
variation residue
C
position
282
score
100.0
distance
34.315228
seq distance
624
chain
B
In BRGDA1; dbSNP:rs199473083.
original residue
R
variation residue
H
position
282
score
100.0
distance
34.315228
seq distance
624
chain
B
In LQT3; affects protein trafficking; dbSNP:rs199473310.
original residue
M
variation residue
L
position
1766
score
100.0
distance
34.387276
seq distance
851
chain
B
In LQT3; affects protein trafficking; dbSNP:rs199473310.
original residue
M
variation residue
L
position
1766
score
100.0
distance
34.387276
seq distance
851
chain
B
In SSS1 and BRGDA1; dbSNP:rs137854612.
original residue
G
variation residue
R
position
1408
score
100.0
distance
34.416264
seq distance
493
chain
B
In SSS1 and BRGDA1; dbSNP:rs137854612.
original residue
G
variation residue
R
position
1408
score
100.0
distance
34.416264
seq distance
493
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473237.
original residue
C
variation residue
Y
position
1363
score
100.0
distance
34.50148
seq distance
448
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473237.
original residue
C
variation residue
Y
position
1363
score
100.0
distance
34.50148
seq distance
448
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473610.
original residue
Y
variation residue
C
position
1409
score
100.0
distance
34.7314
seq distance
494
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473610.
original residue
Y
variation residue
C
position
1409
score
100.0
distance
34.7314
seq distance
494
chain
B
In LQT3 and PFHB1A; dbSNP:rs199473282.
original residue
T
variation residue
K
position
1620
score
100.0
distance
34.933876
seq distance
705
chain
B
In BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range; dbSNP:rs199473282.
original residue
T
variation residue
M
position
1620
score
100.0
distance
34.933876
seq distance
705
chain
B
In LQT3 and PFHB1A; dbSNP:rs199473282.
original residue
T
variation residue
K
position
1620
score
100.0
distance
34.933876
seq distance
705
chain
B
In BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range; dbSNP:rs199473282.
original residue
T
variation residue
M
position
1620
score
100.0
distance
34.933876
seq distance
705
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473247.
original residue
G
variation residue
V
position
1433
score
100.0
distance
34.965145
seq distance
518
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473247.
original residue
G
variation residue
V
position
1433
score
100.0
distance
34.965145
seq distance
518
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473094.
original residue
R
variation residue
W
position
340
score
100.0
distance
34.99138
seq distance
566
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473094.
original residue
R
variation residue
W
position
340
score
100.0
distance
34.99138
seq distance
566
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473232.
original residue
M
variation residue
R
position
1351
score
100.0
distance
35.208534
seq distance
436
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473232.
original residue
M
variation residue
R
position
1351
score
100.0
distance
35.208534
seq distance
436
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
H
position
1626
score
100.0
distance
35.4868
seq distance
711
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
P
position
1626
score
100.0
distance
35.4868
seq distance
711
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
H
position
1626
score
100.0
distance
35.4868
seq distance
711
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
P
position
1626
score
100.0
distance
35.4868
seq distance
711
chain
B
In BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation; dbSNP:rs199473180.
original residue
R
variation residue
C
position
1629
score
59.09090909090909
distance
35.520943
seq distance
714
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
H
position
1629
score
59.09090909090909
distance
35.520943
seq distance
714
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
L
position
1629
score
59.09090909090909
distance
35.520943
seq distance
714
chain
B
In BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation; dbSNP:rs199473623.
original residue
R
variation residue
Q
position
1629
score
100.0
distance
35.520943
seq distance
714
chain
B
In BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation; dbSNP:rs199473180.
original residue
R
variation residue
C
position
1629
score
59.09090909090909
distance
35.520943
seq distance
714
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
H
position
1629
score
59.09090909090909
distance
35.520943
seq distance
714
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
L
position
1629
score
59.09090909090909
distance
35.520943
seq distance
714
chain
B
In BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation; dbSNP:rs199473623.
original residue
R
variation residue
Q
position
1629
score
100.0
distance
35.520943
seq distance
714
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473307.
original residue
L
variation residue
F
position
1761
score
100.0
distance
35.555244
seq distance
846
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473308.
original residue
L
variation residue
H
position
1761
score
100.0
distance
35.555244
seq distance
846
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473307.
original residue
L
variation residue
F
position
1761
score
100.0
distance
35.555244
seq distance
846
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473308.
original residue
L
variation residue
H
position
1761
score
100.0
distance
35.555244
seq distance
846
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473290.
original residue
L
variation residue
F
position
1650
score
100.0
distance
35.78409
seq distance
735
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473290.
original residue
L
variation residue
F
position
1650
score
100.0
distance
35.78409
seq distance
735
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473233.
original residue
V
variation residue
M
position
1353
score
100.0
distance
36.22517
seq distance
438
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473233.
original residue
V
variation residue
M
position
1353
score
100.0
distance
36.22517
seq distance
438
chain
B
In LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve; dbSNP:rs199473311.
original residue
I
variation residue
V
position
1768
score
100.0
distance
36.278797
seq distance
853
chain
B
In LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve; dbSNP:rs199473311.
original residue
I
variation residue
V
position
1768
score
100.0
distance
36.278797
seq distance
853
chain
B
In LQT3; dbSNP:rs199473287.
original residue
R
variation residue
C
position
1644
score
100.0
distance
36.308887
seq distance
729
chain
B
In LQT3; dbSNP:rs28937316.
original residue
R
variation residue
H
position
1644
score
100.0
distance
36.308887
seq distance
729
chain
B
In LQT3; dbSNP:rs199473287.
original residue
R
variation residue
C
position
1644
score
100.0
distance
36.308887
seq distance
729
chain
B
In LQT3; dbSNP:rs28937316.
original residue
R
variation residue
H
position
1644
score
100.0
distance
36.308887
seq distance
729
chain
B
In BRGDA1; severe reduction of sodium currents; dbSNP:rs199473093.
original residue
P
variation residue
L
position
336
score
100.0
distance
36.46649
seq distance
570
chain
B
In BRGDA1; severe reduction of sodium currents; dbSNP:rs199473093.
original residue
P
variation residue
L
position
336
score
100.0
distance
36.46649
seq distance
570
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473557.
original residue
L
variation residue
P
position
136
score
100.0
distance
36.516678
seq distance
770
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473557.
original residue
L
variation residue
P
position
136
score
100.0
distance
36.516678
seq distance
770
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473234.
original residue
G
variation residue
W
position
1358
score
100.0
distance
36.64825
seq distance
443
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473234.
original residue
G
variation residue
W
position
1358
score
100.0
distance
36.64825
seq distance
443
chain
B
In LQT3; dbSNP:rs199473288.
original residue
T
variation residue
M
position
1645
score
100.0
distance
36.965355
seq distance
730
chain
B
In LQT3; dbSNP:rs199473288.
original residue
T
variation residue
M
position
1645
score
100.0
distance
36.965355
seq distance
730
chain
B
In BRGDA1; dbSNP:rs199473289.
original residue
A
variation residue
V
position
1649
score
100.0
distance
37.04666
seq distance
734
chain
B
In LQT3; dbSNP:rs199473330.
original residue
A
variation residue
S
position
1649
score
54.54545454545454
distance
37.04666
seq distance
734
chain
B
In BRGDA1; dbSNP:rs199473289.
original residue
A
variation residue
V
position
1649
score
100.0
distance
37.04666
seq distance
734
chain
B
In LQT3; dbSNP:rs199473330.
original residue
A
variation residue
S
position
1649
score
54.54545454545454
distance
37.04666
seq distance
734
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473228.
original residue
F
variation residue
L
position
1344
score
100.0
distance
37.28578
seq distance
429
chain
B
In BRGDA1; dbSNP:rs199473229.
original residue
F
variation residue
S
position
1344
score
100.0
distance
37.28578
seq distance
429
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473228.
original residue
F
variation residue
L
position
1344
score
100.0
distance
37.28578
seq distance
429
chain
B
In BRGDA1; dbSNP:rs199473229.
original residue
F
variation residue
S
position
1344
score
100.0
distance
37.28578
seq distance
429
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473299.
original residue
N
variation residue
D
position
1722
score
100.0
distance
37.728134
seq distance
807
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473299.
original residue
N
variation residue
D
position
1722
score
100.0
distance
37.728134
seq distance
807
chain
B
In LQT3; also in SIDS; dbSNP:rs137854605.
original residue
S
variation residue
N
position
941
score
81.81818181818183
distance
38.089115
seq distance
26
chain
B
In LQT3; also in SIDS; dbSNP:rs137854605.
original residue
S
variation residue
N
position
941
score
81.81818181818183
distance
38.089115
seq distance
26
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473230.
original residue
L
variation residue
I
position
1346
score
100.0
distance
38.103027
seq distance
431
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473231.
original residue
L
variation residue
P
position
1346
score
100.0
distance
38.103027
seq distance
431
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473230.
original residue
L
variation residue
I
position
1346
score
100.0
distance
38.103027
seq distance
431
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473231.
original residue
L
variation residue
P
position
1346
score
100.0
distance
38.103027
seq distance
431
chain
B
Phosphoserine
position
805
score
59.09090909090909
distance
38.19697
seq distance
101
chain
B
Phosphoserine
position
805
score
59.09090909090909
distance
38.19697
seq distance
101
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473295.
original residue
A
variation residue
T
position
1698
score
100.0
distance
38.27358
seq distance
783
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473295.
original residue
A
variation residue
T
position
1698
score
100.0
distance
38.27358
seq distance
783
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; changed voltage dependence for activation and inactivation.
original residue
G
variation residue
D
position
1748
score
100.0
distance
38.307457
seq distance
833
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; changed voltage dependence for activation and inactivation.
original residue
G
variation residue
D
position
1748
score
100.0
distance
38.307457
seq distance
833
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473292.
original residue
G
variation residue
R
position
1661
score
100.0
distance
38.404995
seq distance
746
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473292.
original residue
G
variation residue
R
position
1661
score
100.0
distance
38.404995
seq distance
746
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473254.
original residue
V
variation residue
F
position
1468
score
100.0
distance
39.12537
seq distance
553
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41315493.
original residue
V
variation residue
L
position
1468
score
54.54545454545454
distance
39.12537
seq distance
553
chain
B
In ATFB10; dbSNP:rs41315493.
original residue
V
variation residue
M
position
1468
score
54.54545454545454
distance
39.12537
seq distance
553
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473254.
original residue
V
variation residue
F
position
1468
score
100.0
distance
39.12537
seq distance
553
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41315493.
original residue
V
variation residue
L
position
1468
score
54.54545454545454
distance
39.12537
seq distance
553
chain
B
In ATFB10; dbSNP:rs41315493.
original residue
V
variation residue
M
position
1468
score
54.54545454545454
distance
39.12537
seq distance
553
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473302.
original residue
C
variation residue
R
position
1728
score
100.0
distance
39.17672
seq distance
813
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs193922726.
original residue
C
variation residue
W
position
1728
score
100.0
distance
39.17672
seq distance
813
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473302.
original residue
C
variation residue
R
position
1728
score
100.0
distance
39.17672
seq distance
813
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs193922726.
original residue
C
variation residue
W
position
1728
score
100.0
distance
39.17672
seq distance
813
chain
B
In BRGDA1; dbSNP:rs199473239.
original residue
V
variation residue
L
position
1405
score
100.0
distance
39.254997
seq distance
490
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473239.
original residue
V
variation residue
M
position
1405
score
100.0
distance
39.254997
seq distance
490
chain
B
In BRGDA1; dbSNP:rs199473239.
original residue
V
variation residue
L
position
1405
score
100.0
distance
39.254997
seq distance
490
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473239.
original residue
V
variation residue
M
position
1405
score
100.0
distance
39.254997
seq distance
490
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473609.
original residue
G
variation residue
E
position
1406
score
100.0
distance
39.2831
seq distance
491
chain
B
In BRGDA1; dbSNP:rs199473240.
original residue
G
variation residue
R
position
1406
score
100.0
distance
39.2831
seq distance
491
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473609.
original residue
G
variation residue
E
position
1406
score
100.0
distance
39.2831
seq distance
491
chain
B
In BRGDA1; dbSNP:rs199473240.
original residue
G
variation residue
R
position
1406
score
100.0
distance
39.2831
seq distance
491
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473227.
original residue
L
variation residue
V
position
1338
score
100.0
distance
39.30312
seq distance
423
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473227.
original residue
L
variation residue
V
position
1338
score
100.0
distance
39.30312
seq distance
423
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473063.
original residue
K
variation residue
N
position
175
score
100.0
distance
39.325535
seq distance
731
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473063.
original residue
K
variation residue
N
position
175
score
100.0
distance
39.325535
seq distance
731
chain
B
In BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane; dbSNP:rs199473625.
original residue
I
variation residue
V
position
1660
score
100.0
distance
39.68726
seq distance
745
chain
B
In BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane; dbSNP:rs199473625.
original residue
I
variation residue
V
position
1660
score
100.0
distance
39.68726
seq distance
745
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473626.
original residue
S
variation residue
Y
position
1672
score
100.0
distance
39.707207
seq distance
757
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473626.
original residue
S
variation residue
Y
position
1672
score
100.0
distance
39.707207
seq distance
757
chain
B
In dbSNP:rs199473087.
original residue
L
variation residue
M
position
299
score
100.0
distance
39.73865
seq distance
607
chain
B
In dbSNP:rs199473087.
original residue
L
variation residue
M
position
299
score
100.0
distance
39.73865
seq distance
607
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473088.
original residue
V
variation residue
I
position
300
score
100.0
distance
39.75197
seq distance
606
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473088.
original residue
V
variation residue
I
position
300
score
100.0
distance
39.75197
seq distance
606
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473618.
original residue
V
variation residue
I
position
1532
score
100.0
distance
39.761223
seq distance
617
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473618.
original residue
V
variation residue
I
position
1532
score
100.0
distance
39.761223
seq distance
617
chain
B
In BRGDA1; dbSNP:rs199473086.
original residue
V
variation residue
M
position
294
score
100.0
distance
39.827488
seq distance
612
chain
B
In BRGDA1; dbSNP:rs199473086.
original residue
V
variation residue
M
position
294
score
100.0
distance
39.827488
seq distance
612
chain
B
In BRGDA1; dbSNP:rs199473629.
original residue
G
variation residue
E
position
1743
score
100.0
distance
40.477467
seq distance
828
chain
B
In BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells; dbSNP:rs199473305.
original residue
G
variation residue
R
position
1743
score
100.0
distance
40.477467
seq distance
828
chain
B
In BRGDA1; dbSNP:rs199473629.
original residue
G
variation residue
E
position
1743
score
100.0
distance
40.477467
seq distance
828
chain
B
In BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells; dbSNP:rs199473305.
original residue
G
variation residue
R
position
1743
score
100.0
distance
40.477467
seq distance
828
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473293.
original residue
V
variation residue
I
position
1667
score
100.0
distance
40.510284
seq distance
752
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473293.
original residue
V
variation residue
I
position
1667
score
100.0
distance
40.510284
seq distance
752
chain
B
In LQT3; dbSNP:rs199473314.
original residue
V
variation residue
M
position
1777
score
90.9090909090909
distance
40.586845
seq distance
862
chain
B
In LQT3; dbSNP:rs199473314.
original residue
V
variation residue
M
position
1777
score
90.9090909090909
distance
40.586845
seq distance
862
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473067.
original residue
A
variation residue
V
position
185
score
100.0
distance
40.716145
seq distance
721
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473067.
original residue
A
variation residue
V
position
185
score
100.0
distance
40.716145
seq distance
721
chain
B
In LQT3; dbSNP:rs199473291.
original residue
M
variation residue
R
position
1652
score
100.0
distance
40.856434
seq distance
737
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473291.
original residue
M
variation residue
T
position
1652
score
100.0
distance
40.856434
seq distance
737
chain
B
In LQT3; dbSNP:rs199473291.
original residue
M
variation residue
R
position
1652
score
100.0
distance
40.856434
seq distance
737
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473291.
original residue
M
variation residue
T
position
1652
score
100.0
distance
40.856434
seq distance
737
chain
B
In BRGDA1; loss of function; dbSNP:rs199473558.
original residue
T
variation residue
I
position
187
score
100.0
distance
40.96728
seq distance
719
chain
B
In BRGDA1; loss of function; dbSNP:rs199473558.
original residue
T
variation residue
I
position
187
score
100.0
distance
40.96728
seq distance
719
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473300.
original residue
T
variation residue
N
position
1723
score
100.0
distance
41.10121
seq distance
808
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473300.
original residue
T
variation residue
N
position
1723
score
100.0
distance
41.10121
seq distance
808
chain
B
In PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance; dbSNP:rs137854608.
original residue
G
variation residue
S
position
298
score
100.0
distance
41.134556
seq distance
608
chain
B
In PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance; dbSNP:rs137854608.
original residue
G
variation residue
S
position
298
score
100.0
distance
41.134556
seq distance
608
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473294.
original residue
A
variation residue
T
position
1680
score
100.0
distance
41.198647
seq distance
765
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473294.
original residue
A
variation residue
T
position
1680
score
100.0
distance
41.198647
seq distance
765
chain
B
In LQT3 and BRGDA1.
original residue
variation residue
position
1617
score
100.0
distance
41.224945
seq distance
702
chain
B
In LQT3 and BRGDA1.
original residue
variation residue
position
1617
score
100.0
distance
41.224945
seq distance
702
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473226.
original residue
I
variation residue
V
position
1334
score
100.0
distance
41.350037
seq distance
419
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473226.
original residue
I
variation residue
V
position
1334
score
100.0
distance
41.350037
seq distance
419
chain
B
In BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no domiFalset negative effect.
original residue
L
variation residue
Q
position
812
score
100.0
distance
41.730484
seq distance
94
chain
B
In BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no domiFalset negative effect.
original residue
L
variation residue
Q
position
812
score
100.0
distance
41.730484
seq distance
94
chain
B
Phosphoserine
position
1744
score
50.0
distance
41.855183
seq distance
829
chain
B
Phosphoserine
position
1744
score
50.0
distance
41.855183
seq distance
829
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473160.
original residue
R
variation residue
P
position
808
score
100.0
distance
41.96913
seq distance
98
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473160.
original residue
R
variation residue
P
position
808
score
100.0
distance
41.96913
seq distance
98
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473634.
original residue
T
variation residue
M
position
1779
score
72.72727272727273
distance
42.223763
seq distance
864
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473634.
original residue
T
variation residue
M
position
1779
score
72.72727272727273
distance
42.223763
seq distance
864
chain
B
In dbSNP:rs61746118.
original residue
A
variation residue
S
position
286
score
100.0
distance
42.25459
seq distance
620
chain
B
In dbSNP:rs61746118.
original residue
A
variation residue
S
position
286
score
100.0
distance
42.25459
seq distance
620
chain
B
In LQT3; dbSNP:rs199473622.
original residue
S
variation residue
W
position
1609
score
100.0
distance
42.395832
seq distance
694
chain
B
In LQT3; dbSNP:rs199473622.
original residue
S
variation residue
W
position
1609
score
100.0
distance
42.395832
seq distance
694
chain
B
In LQT3; dbSNP:rs199473256.
original residue
F
variation residue
C
position
1473
score
100.0
distance
42.75743
seq distance
558
chain
B
In LQT3; dbSNP:rs199473256.
original residue
F
variation residue
C
position
1473
score
100.0
distance
42.75743
seq distance
558
chain
B
In BRGDA1; dbSNP:rs199473608.
original residue
S
variation residue
I
position
1382
score
100.0
distance
42.83749
seq distance
467
chain
B
In BRGDA1; dbSNP:rs199473608.
original residue
S
variation residue
I
position
1382
score
100.0
distance
42.83749
seq distance
467
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473162.
original residue
F
variation residue
Y
position
816
score
100.0
distance
42.99731
seq distance
90
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473162.
original residue
F
variation residue
Y
position
816
score
100.0
distance
42.99731
seq distance
90
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473274.
original residue
F
variation residue
C
position
1571
score
100.0
distance
43.0244
seq distance
656
chain
B
In BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest; dbSNP:rs1369632373.
original residue
F
variation residue
L
position
1571
score
100.0
distance
43.0244
seq distance
656
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473274.
original residue
F
variation residue
C
position
1571
score
100.0
distance
43.0244
seq distance
656
chain
B
In BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest; dbSNP:rs1369632373.
original residue
F
variation residue
L
position
1571
score
100.0
distance
43.0244
seq distance
656
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473255.
original residue
N
variation residue
S
position
1472
score
100.0
distance
43.428333
seq distance
557
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473255.
original residue
N
variation residue
S
position
1472
score
100.0
distance
43.428333
seq distance
557
chain
B
In PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3; dbSNP:rs137854607.
original residue
D
variation residue
N
position
1595
score
100.0
distance
43.42844
seq distance
680
chain
B
In PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3; dbSNP:rs137854607.
original residue
D
variation residue
N
position
1595
score
100.0
distance
43.42844
seq distance
680
chain
B
In BRGDA1; dbSNP:rs137854611.
original residue
A
variation residue
E
position
735
score
100.0
distance
43.52845
seq distance
171
chain
B
In BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs137854611.
original residue
A
variation residue
V
position
735
score
100.0
distance
43.52845
seq distance
171
chain
B
In BRGDA1; dbSNP:rs137854611.
original residue
A
variation residue
E
position
735
score
100.0
distance
43.52845
seq distance
171
chain
B
In BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs137854611.
original residue
A
variation residue
V
position
735
score
100.0
distance
43.52845
seq distance
171
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473277.
original residue
F
variation residue
S
position
1594
score
100.0
distance
43.651253
seq distance
679
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473277.
original residue
F
variation residue
S
position
1594
score
100.0
distance
43.651253
seq distance
679
chain
B
In LQT3 and SIDS; dbSNP:rs199473604.
original residue
S
variation residue
Y
position
1333
score
100.0
distance
43.8536
seq distance
418
chain
B
In LQT3 and SIDS; dbSNP:rs199473604.
original residue
S
variation residue
Y
position
1333
score
100.0
distance
43.8536
seq distance
418
chain
B
In LQT3; dbSNP:rs199473615.
original residue
F
variation residue
L
position
1486
score
100.0
distance
44.13613
seq distance
571
chain
B
In LQT3; dbSNP:rs199473615.
original residue
F
variation residue
L
position
1486
score
100.0
distance
44.13613
seq distance
571
chain
B
In BRGDA1; dbSNP:rs199473584.
original residue
R
variation residue
Q
position
814
score
100.0
distance
44.355145
seq distance
92
chain
B
In BRGDA1; dbSNP:rs199473584.
original residue
R
variation residue
Q
position
814
score
100.0
distance
44.355145
seq distance
92
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473066.
original residue
C
variation residue
R
position
182
score
100.0
distance
44.374367
seq distance
724
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473066.
original residue
C
variation residue
R
position
182
score
100.0
distance
44.374367
seq distance
724
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473065.
original residue
A
variation residue
G
position
178
score
100.0
distance
44.448067
seq distance
728
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473065.
original residue
A
variation residue
G
position
178
score
100.0
distance
44.448067
seq distance
728
chain
B
In BRGDA1; asymptomatic patient; associated with R-1527; dbSNP:rs199473273.
original residue
A
variation residue
P
position
1569
score
100.0
distance
44.45613
seq distance
654
chain
B
In BRGDA1; asymptomatic patient; associated with R-1527; dbSNP:rs199473273.
original residue
A
variation residue
P
position
1569
score
100.0
distance
44.45613
seq distance
654
chain
B
In dbSNP:rs199473563.
original residue
N
variation residue
S
position
291
score
100.0
distance
44.641014
seq distance
615
chain
B
In dbSNP:rs199473563.
original residue
N
variation residue
S
position
291
score
100.0
distance
44.641014
seq distance
615
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473221.
original residue
V
variation residue
G
position
1323
score
100.0
distance
44.757786
seq distance
408
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473221.
original residue
V
variation residue
G
position
1323
score
100.0
distance
44.757786
seq distance
408
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
P
position
1330
score
100.0
distance
44.773594
seq distance
415
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
T
position
1330
score
100.0
distance
44.773594
seq distance
415
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
P
position
1330
score
100.0
distance
44.773594
seq distance
415
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
T
position
1330
score
100.0
distance
44.773594
seq distance
415
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473280.
original residue
V
variation residue
M
position
1604
score
100.0
distance
44.84266
seq distance
689
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473280.
original residue
V
variation residue
M
position
1604
score
100.0
distance
44.84266
seq distance
689
chain
B
Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
original residue
D
variation residue
A
position
1610
score
100.0
distance
45.354874
seq distance
695
chain
B
High decrease in affinity to the sea anemone toxin anthopleurin-B.
original residue
D
variation residue
R
position
1610
score
100.0
distance
45.354874
seq distance
695
chain
B
Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
original residue
D
variation residue
A
position
1610
score
100.0
distance
45.354874
seq distance
695
chain
B
High decrease in affinity to the sea anemone toxin anthopleurin-B.
original residue
D
variation residue
R
position
1610
score
100.0
distance
45.354874
seq distance
695
chain
B
In dbSNP:rs45553235.
original residue
Q
variation residue
K
position
1613
score
50.0
distance
45.478508
seq distance
698
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473281.
original residue
Q
variation residue
L
position
1613
score
100.0
distance
45.478508
seq distance
698
chain
B
In dbSNP:rs45553235.
original residue
Q
variation residue
K
position
1613
score
50.0
distance
45.478508
seq distance
698
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473281.
original residue
Q
variation residue
L
position
1613
score
100.0
distance
45.478508
seq distance
698
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473222.
original residue
A
variation residue
S
position
1326
score
100.0
distance
45.731304
seq distance
411
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473222.
original residue
A
variation residue
S
position
1326
score
100.0
distance
45.731304
seq distance
411
chain
B
In BRGDA1; dbSNP:rs199473267.
original residue
G
variation residue
S
position
1502
score
100.0
distance
45.893764
seq distance
587
chain
B
In BRGDA1; dbSNP:rs199473267.
original residue
G
variation residue
S
position
1502
score
100.0
distance
45.893764
seq distance
587
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473150.
original residue
T
variation residue
I
position
731
score
100.0
distance
46.006905
seq distance
175
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473150.
original residue
T
variation residue
I
position
731
score
100.0
distance
46.006905
seq distance
175
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473278.
original residue
F
variation residue
I
position
1596
score
100.0
distance
46.284016
seq distance
681
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473278.
original residue
F
variation residue
I
position
1596
score
100.0
distance
46.284016
seq distance
681
chain
B
In LQT3; dbSNP:rs199473059.
original residue
V
variation residue
L
position
125
score
100.0
distance
46.51135
seq distance
781
chain
B
In LQT3; dbSNP:rs199473059.
original residue
V
variation residue
L
position
125
score
100.0
distance
46.51135
seq distance
781
chain
B
In BRGDA1; dbSNP:rs199473304.
original residue
G
variation residue
R
position
1740
score
100.0
distance
46.534832
seq distance
825
chain
B
In BRGDA1; dbSNP:rs199473304.
original residue
G
variation residue
R
position
1740
score
100.0
distance
46.534832
seq distance
825
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473225.
original residue
P
variation residue
L
position
1332
score
100.0
distance
46.68004
seq distance
417
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473225.
original residue
P
variation residue
L
position
1332
score
100.0
distance
46.68004
seq distance
417
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473258.
original residue
M
variation residue
L
position
1487
score
100.0
distance
46.705627
seq distance
572
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473258.
original residue
M
variation residue
L
position
1487
score
100.0
distance
46.705627
seq distance
572
chain
B
In BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation.
original residue
K
variation residue
E
position
817
score
100.0
distance
46.717396
seq distance
89
chain
B
In BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation.
original residue
K
variation residue
E
position
817
score
100.0
distance
46.717396
seq distance
89
chain
B
Phosphoserine; by PKC
position
1503
score
100.0
distance
46.93811
seq distance
588
chain
B
Phosphoserine; by PKC
position
1503
score
100.0
distance
46.93811
seq distance
588
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473620.
original residue
E
variation residue
K
position
1574
score
100.0
distance
47.23493
seq distance
659
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473620.
original residue
E
variation residue
K
position
1574
score
100.0
distance
47.23493
seq distance
659
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473276.
original residue
I
variation residue
M
position
1593
score
100.0
distance
47.325676
seq distance
678
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473276.
original residue
I
variation residue
M
position
1593
score
100.0
distance
47.325676
seq distance
678
chain
B
Induces accelerated recovery from channel fast inactivation.
original residue
Q
variation residue
K
position
1476
score
100.0
distance
47.58635
seq distance
561
chain
B
Induces accelerated recovery from channel fast inactivation.
original residue
Q
variation residue
K
position
1476
score
100.0
distance
47.58635
seq distance
561
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473084.
original residue
G
variation residue
S
position
289
score
100.0
distance
47.61729
seq distance
617
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473084.
original residue
G
variation residue
S
position
289
score
100.0
distance
47.61729
seq distance
617
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473205.
original residue
Y
variation residue
H
position
1228
score
100.0
distance
47.747856
seq distance
313
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473205.
original residue
Y
variation residue
H
position
1228
score
100.0
distance
47.747856
seq distance
313
chain
B
Found in a patient with long QT syndrome; unknown pathological significance; dbSNP:rs199473263.
original residue
M
variation residue
T
position
1498
score
100.0
distance
47.76863
seq distance
583
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473264.
original residue
M
variation residue
V
position
1498
score
100.0
distance
47.76863
seq distance
583
chain
B
Found in a patient with long QT syndrome; unknown pathological significance; dbSNP:rs199473263.
original residue
M
variation residue
T
position
1498
score
100.0
distance
47.76863
seq distance
583
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473264.
original residue
M
variation residue
V
position
1498
score
100.0
distance
47.76863
seq distance
583
chain
B
In BRGDA1; dbSNP:rs199473220.
original residue
G
variation residue
V
position
1319
score
100.0
distance
47.828804
seq distance
404
chain
B
In BRGDA1; dbSNP:rs199473220.
original residue
G
variation residue
V
position
1319
score
100.0
distance
47.828804
seq distance
404
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473262.
original residue
Y
variation residue
S
position
1495
score
100.0
distance
48.02594
seq distance
580
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473262.
original residue
Y
variation residue
S
position
1495
score
100.0
distance
48.02594
seq distance
580
chain
B
In BRGDA1; dbSNP:rs185492581.
original residue
K
variation residue
E
position
126
score
100.0
distance
48.057796
seq distance
780
chain
B
In BRGDA1; dbSNP:rs185492581.
original residue
K
variation residue
E
position
126
score
100.0
distance
48.057796
seq distance
780
chain
B
In LQT3.
original residue
variation residue
begin
1505
end
1507
score
100.0
distance
48.148212
seq distance
590
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473268.
original residue
K
variation residue
N
position
1505
score
100.0
distance
48.148212
seq distance
590
chain
B
In LQT3.
original residue
variation residue
begin
1505
end
1507
score
100.0
distance
48.148212
seq distance
590
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473268.
original residue
K
variation residue
N
position
1505
score
100.0
distance
48.148212
seq distance
590
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473266.
original residue
L
variation residue
V
position
1501
score
100.0
distance
48.169834
seq distance
586
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473266.
original residue
L
variation residue
V
position
1501
score
100.0
distance
48.169834
seq distance
586
chain
B
In ATFB10; dbSNP:rs199473111.
original residue
E
variation residue
K
position
428
score
63.63636363636363
distance
48.37995
seq distance
478
chain
B
In ATFB10; dbSNP:rs199473111.
original residue
E
variation residue
K
position
428
score
63.63636363636363
distance
48.37995
seq distance
478
chain
B
In LQT3; dbSNP:rs28937317.
original residue
N
variation residue
S
position
1325
score
100.0
distance
48.551785
seq distance
410
chain
B
In LQT3; dbSNP:rs28937317.
original residue
N
variation residue
S
position
1325
score
100.0
distance
48.551785
seq distance
410
chain
B
4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
original residue
K
variation residue
A
position
1614
score
100.0
distance
48.589157
seq distance
699
chain
B
4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
original residue
K
variation residue
A
position
1614
score
100.0
distance
48.589157
seq distance
699
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473204.
original residue
E
variation residue
K
position
1225
score
100.0
distance
48.611332
seq distance
310
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473204.
original residue
E
variation residue
K
position
1225
score
100.0
distance
48.611332
seq distance
310
chain
B
In BRGDA1; asymptomatic patient; associated with P-1569; dbSNP:rs199473270.
original residue
K
variation residue
R
position
1527
score
100.0
distance
48.970615
seq distance
612
chain
B
In BRGDA1; asymptomatic patient; associated with P-1569; dbSNP:rs199473270.
original residue
K
variation residue
R
position
1527
score
100.0
distance
48.970615
seq distance
612
chain
B
Associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031.
original residue
L
variation residue
F
position
1308
score
100.0
distance
49.199894
seq distance
393
chain
B
Associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031.
original residue
L
variation residue
F
position
1308
score
100.0
distance
49.199894
seq distance
393
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473058.
original residue
R
variation residue
Q
position
121
score
72.72727272727273
distance
49.42952
seq distance
785
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473556.
original residue
R
variation residue
W
position
121
score
72.72727272727273
distance
49.42952
seq distance
785
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473058.
original residue
R
variation residue
Q
position
121
score
72.72727272727273
distance
49.42952
seq distance
785
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473556.
original residue
R
variation residue
W
position
121
score
72.72727272727273
distance
49.42952
seq distance
785
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473219.
original residue
L
variation residue
P
position
1311
score
100.0
distance
49.597595
seq distance
396
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473219.
original residue
L
variation residue
P
position
1311
score
100.0
distance
49.597595
seq distance
396
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473159.
original residue
V
variation residue
I
position
789
score
100.0
distance
49.598003
seq distance
117
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473159.
original residue
V
variation residue
I
position
789
score
100.0
distance
49.598003
seq distance
117
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473303.
original residue
R
variation residue
W
position
1739
score
100.0
distance
49.655373
seq distance
824
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473303.
original residue
R
variation residue
W
position
1739
score
100.0
distance
49.655373
seq distance
824
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473259.
original residue
T
variation residue
R
position
1488
score
100.0
distance
49.74919
seq distance
573
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473259.
original residue
T
variation residue
R
position
1488
score
100.0
distance
49.74919
seq distance
573
chain
B
In LQT3; unknown pathological significance; dbSNP:rs761375502.
original residue
variation residue
position
429
score
54.54545454545454
distance
49.967255
seq distance
477
chain
B
In LQT3; unknown pathological significance; dbSNP:rs761375502.
original residue
variation residue
position
429
score
54.54545454545454
distance
49.967255
seq distance
477
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473582.
original residue
E
variation residue
K
position
746
score
100.0
distance
50.024292
seq distance
160
chain
B
In dbSNP:rs199473193.
original residue
E
variation residue
K
position
746
score
50.0
distance
50.024292
seq distance
160
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473582.
original residue
E
variation residue
K
position
746
score
100.0
distance
50.024292
seq distance
160
chain
B
In dbSNP:rs199473193.
original residue
E
variation residue
K
position
746
score
50.0
distance
50.024292
seq distance
160
chain
B
In BRGDA1; dbSNP:rs199473261.
original residue
Y
variation residue
N
position
1494
score
100.0
distance
50.099194
seq distance
579
chain
B
In BRGDA1; dbSNP:rs199473261.
original residue
Y
variation residue
N
position
1494
score
100.0
distance
50.099194
seq distance
579
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473269.
original residue
V
variation residue
M
position
1525
score
100.0
distance
50.26395
seq distance
610
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473269.
original residue
V
variation residue
M
position
1525
score
100.0
distance
50.26395
seq distance
610
chain
B
In dbSNP:rs199473265.
original residue
K
variation residue
N
position
1500
score
100.0
distance
50.309822
seq distance
585
chain
B
In BRGDA1.
original residue
variation residue
position
1500
score
100.0
distance
50.309822
seq distance
585
chain
B
In dbSNP:rs199473265.
original residue
K
variation residue
N
position
1500
score
100.0
distance
50.309822
seq distance
585
chain
B
In BRGDA1.
original residue
variation residue
position
1500
score
100.0
distance
50.309822
seq distance
585
chain
B
In LQT3; dbSNP:rs199473603.
original residue
T
variation residue
M
position
1304
score
100.0
distance
50.350956
seq distance
389
chain
B
In LQT3; dbSNP:rs199473603.
original residue
T
variation residue
M
position
1304
score
100.0
distance
50.350956
seq distance
389
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473597.
original residue
S
variation residue
N
position
1219
score
100.0
distance
50.648743
seq distance
304
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473597.
original residue
S
variation residue
N
position
1219
score
100.0
distance
50.648743
seq distance
304
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473152.
original residue
Q
variation residue
R
position
750
score
100.0
distance
51.00822
seq distance
156
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473152.
original residue
Q
variation residue
R
position
750
score
100.0
distance
51.00822
seq distance
156
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs137854606.
original residue
G
variation residue
C
position
797
score
50.0
distance
51.55446
seq distance
109
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs137854606.
original residue
G
variation residue
C
position
797
score
50.0
distance
51.55446
seq distance
109
chain
B
In BRGDA1.
original residue
variation residue
position
1479
score
100.0
distance
52.285122
seq distance
564
chain
B
In BRGDA1.
original residue
variation residue
position
1479
score
100.0
distance
52.285122
seq distance
564
chain
B
In LQT3; dbSNP:rs199473598.
original residue
E
variation residue
K
position
1231
score
100.0
distance
52.81416
seq distance
316
chain
B
In LQT3; dbSNP:rs199473598.
original residue
E
variation residue
K
position
1231
score
100.0
distance
52.81416
seq distance
316
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473616.
original residue
E
variation residue
D
position
1489
score
100.0
distance
52.820656
seq distance
574
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473616.
original residue
E
variation residue
D
position
1489
score
100.0
distance
52.820656
seq distance
574
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473260.
original residue
K
variation residue
R
position
1493
score
100.0
distance
52.82174
seq distance
578
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473260.
original residue
K
variation residue
R
position
1493
score
100.0
distance
52.82174
seq distance
578
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473153.
original residue
G
variation residue
R
position
752
score
100.0
distance
53.376945
seq distance
154
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473153.
original residue
G
variation residue
R
position
752
score
100.0
distance
53.376945
seq distance
154
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473206.
original residue
R
variation residue
Q
position
1232
score
100.0
distance
53.44861
seq distance
317
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473207.
original residue
R
variation residue
W
position
1232
score
100.0
distance
53.44861
seq distance
317
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473206.
original residue
R
variation residue
Q
position
1232
score
100.0
distance
53.44861
seq distance
317
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473207.
original residue
R
variation residue
W
position
1232
score
100.0
distance
53.44861
seq distance
317
chain
B
In LQT3.
original residue
variation residue
begin
1507
end
1509
score
100.0
distance
54.134064
seq distance
592
chain
B
In LQT3.
original residue
variation residue
begin
1507
end
1509
score
100.0
distance
54.134064
seq distance
592
chain
B
May confer susceptibility to acquired arrhythmia; dbSNP:rs7626962.
original residue
S
variation residue
Y
position
1218
score
50.0
distance
54.273403
seq distance
303
chain
B
May confer susceptibility to acquired arrhythmia; dbSNP:rs7626962.
original residue
S
variation residue
Y
position
1218
score
50.0
distance
54.273403
seq distance
303
chain
B
In LQT3; dbSNP:rs199473257.
original residue
G
variation residue
E
position
1481
score
100.0
distance
54.277058
seq distance
566
chain
B
In LQT3; dbSNP:rs199473257.
original residue
G
variation residue
E
position
1481
score
100.0
distance
54.277058
seq distance
566
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473617.
original residue
I
variation residue
K
position
1521
score
100.0
distance
55.9602
seq distance
606
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473617.
original residue
I
variation residue
K
position
1521
score
100.0
distance
55.9602
seq distance
606
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473154.
original residue
G
variation residue
E
position
758
score
100.0
distance
56.259686
seq distance
148
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473154.
original residue
G
variation residue
E
position
758
score
100.0
distance
56.259686
seq distance
148
chain
B
In LQT3; unknown pathological significance; dbSNP:rs794728920.
original residue
variation residue
position
1212
score
100.0
distance
56.295246
seq distance
297
chain
B
In LQT3; unknown pathological significance; dbSNP:rs794728920.
original residue
variation residue
position
1212
score
100.0
distance
56.295246
seq distance
297
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473156.
original residue
M
variation residue
R
position
764
score
100.0
distance
56.31826
seq distance
142
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473156.
original residue
M
variation residue
R
position
764
score
100.0
distance
56.31826
seq distance
142
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473275.
original residue
L
variation residue
P
position
1582
score
100.0
distance
56.320232
seq distance
667
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473275.
original residue
L
variation residue
P
position
1582
score
100.0
distance
56.320232
seq distance
667
chain
B
In SSS1; dbSNP:rs28937319.
original residue
P
variation residue
L
position
1298
score
100.0
distance
56.430225
seq distance
383
chain
B
In SSS1; dbSNP:rs28937319.
original residue
P
variation residue
L
position
1298
score
100.0
distance
56.430225
seq distance
383
chain
B
In BRGDA1; dbSNP:rs199473208.
original residue
K
variation residue
N
position
1236
score
100.0
distance
56.452724
seq distance
321
chain
B
In BRGDA1; dbSNP:rs199473208.
original residue
K
variation residue
N
position
1236
score
100.0
distance
56.452724
seq distance
321
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473601.
original residue
W
variation residue
C
position
1271
score
100.0
distance
56.526924
seq distance
356
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473601.
original residue
W
variation residue
C
position
1271
score
100.0
distance
56.526924
seq distance
356
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473210.
original residue
L
variation residue
P
position
1239
score
100.0
distance
57.11169
seq distance
324
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473210.
original residue
L
variation residue
P
position
1239
score
100.0
distance
57.11169
seq distance
324
chain
B
In CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials; dbSNP:rs137854618.
original residue
D
variation residue
N
position
1275
score
100.0
distance
57.551846
seq distance
360
chain
B
In CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials; dbSNP:rs137854618.
original residue
D
variation residue
N
position
1275
score
100.0
distance
57.551846
seq distance
360
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45514691.
original residue
R
variation residue
C
position
1583
score
100.0
distance
58.539764
seq distance
668
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473621.
original residue
R
variation residue
H
position
1583
score
100.0
distance
58.539764
seq distance
668
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45514691.
original residue
R
variation residue
C
position
1583
score
100.0
distance
58.539764
seq distance
668
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473621.
original residue
R
variation residue
H
position
1583
score
100.0
distance
58.539764
seq distance
668
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473599.
original residue
D
variation residue
N
position
1243
score
100.0
distance
58.814957
seq distance
328
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473599.
original residue
D
variation residue
N
position
1243
score
100.0
distance
58.814957
seq distance
328
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473158.
original residue
P
variation residue
S
position
773
score
100.0
distance
59.042274
seq distance
133
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473158.
original residue
P
variation residue
S
position
773
score
100.0
distance
59.042274
seq distance
133
chain
B
In dbSNP:rs199473211.
original residue
E
variation residue
Q
position
1240
score
100.0
distance
59.67556
seq distance
325
chain
B
In dbSNP:rs199473211.
original residue
E
variation residue
Q
position
1240
score
100.0
distance
59.67556
seq distance
325
chain
B
In BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke; dbSNP:rs137854602.
original residue
R
variation residue
W
position
1512
score
100.0
distance
60.51989
seq distance
597
chain
B
In BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke; dbSNP:rs137854602.
original residue
R
variation residue
W
position
1512
score
100.0
distance
60.51989
seq distance
597
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473056.
original residue
N
variation residue
K
position
1269
score
54.54545454545454
distance
60.7176
seq distance
354
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473056.
original residue
N
variation residue
K
position
1269
score
54.54545454545454
distance
60.7176
seq distance
354
chain
B
In LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation; dbSNP:rs199473218.
original residue
E
variation residue
K
position
1295
score
100.0
distance
60.824482
seq distance
380
chain
B
In LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation; dbSNP:rs199473218.
original residue
E
variation residue
K
position
1295
score
100.0
distance
60.824482
seq distance
380
chain
B
In LQT3; dbSNP:rs199473321.
original residue
D
variation residue
G
position
1280
score
50.0
distance
60.86688
seq distance
365
chain
B
In LQT3; dbSNP:rs199473321.
original residue
D
variation residue
G
position
1280
score
50.0
distance
60.86688
seq distance
365
chain
B
In LQT3; drug-induced LQT syndrome; dbSNP:rs45589741.
original residue
F
variation residue
L
position
1250
score
100.0
distance
62.117817
seq distance
335
chain
B
In LQT3; drug-induced LQT syndrome; dbSNP:rs45589741.
original residue
F
variation residue
L
position
1250
score
100.0
distance
62.117817
seq distance
335
chain
B
In dbSNP:rs199473191.
original residue
V
variation residue
L
position
1284
score
50.0
distance
62.167324
seq distance
369
chain
B
In dbSNP:rs199473191.
original residue
V
variation residue
L
position
1284
score
50.0
distance
62.167324
seq distance
369
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473149.
original residue
P
variation residue
L
position
717
score
100.0
distance
62.358894
seq distance
189
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473149.
original residue
P
variation residue
L
position
717
score
100.0
distance
62.358894
seq distance
189
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473157.
original residue
D
variation residue
N
position
772
score
100.0
distance
62.4134
seq distance
134
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473157.
original residue
D
variation residue
N
position
772
score
100.0
distance
62.4134
seq distance
134
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473216.
original residue
L
variation residue
M
position
1283
score
100.0
distance
62.780243
seq distance
368
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473216.
original residue
L
variation residue
M
position
1283
score
100.0
distance
62.780243
seq distance
368
chain
B
In dbSNP:rs41313697.
original residue
L
variation residue
V
position
1286
score
54.54545454545454
distance
62.97146
seq distance
371
chain
B
In dbSNP:rs41313697.
original residue
L
variation residue
V
position
1286
score
54.54545454545454
distance
62.97146
seq distance
371
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473213.
original residue
V
variation residue
D
position
1249
score
100.0
distance
64.12734
seq distance
334
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473213.
original residue
V
variation residue
D
position
1249
score
100.0
distance
64.12734
seq distance
334
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473217.
original residue
A
variation residue
G
position
1288
score
100.0
distance
64.203285
seq distance
373
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473217.
original residue
A
variation residue
G
position
1288
score
100.0
distance
64.203285
seq distance
373
chain
B
In dbSNP:rs199473600.
original residue
V
variation residue
M
position
1251
score
100.0
distance
64.92826
seq distance
336
chain
B
In dbSNP:rs199473600.
original residue
V
variation residue
M
position
1251
score
100.0
distance
64.92826
seq distance
336
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473214.
original residue
E
variation residue
G
position
1253
score
100.0
distance
65.05248
seq distance
338
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473214.
original residue
E
variation residue
G
position
1253
score
100.0
distance
65.05248
seq distance
338
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs41311127.
original residue
F
variation residue
S
position
1293
score
100.0
distance
66.56636
seq distance
378
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs41311127.
original residue
F
variation residue
S
position
1293
score
100.0
distance
66.56636
seq distance
378
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs137854616.
original residue
G
variation residue
S
position
1262
score
100.0
distance
71.28456
seq distance
347
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs137854616.
original residue
G
variation residue
S
position
1262
score
100.0
distance
71.28456
seq distance
347
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473202.
original residue
Y
variation residue
S
position
1199
score
100.0
distance
71.73739
seq distance
284
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473202.
original residue
Y
variation residue
S
position
1199
score
100.0
distance
71.73739
seq distance
284
chain
B
In dbSNP:rs199473148.
original residue
S
variation residue
F
position
705
score
100.0
distance
74.76139
seq distance
201
chain
B
In dbSNP:rs199473148.
original residue
S
variation residue
F
position
705
score
100.0
distance
74.76139
seq distance
201
chain
B
In dbSNP:rs199473125.
original residue
R
variation residue
H
position
1195
score
50.0
distance
76.84495
seq distance
280
chain
B
In dbSNP:rs199473125.
original residue
R
variation residue
H
position
1195
score
50.0
distance
76.84495
seq distance
280
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473147.
original residue
P
variation residue
L
position
701
score
72.72727272727273
distance
77.63808
seq distance
205
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473147.
original residue
P
variation residue
L
position
701
score
72.72727272727273
distance
77.63808
seq distance
205
chain
B
In BRGDA1; dbSNP:rs199473124.
original residue
L
variation residue
Q
position
1194
score
50.0
distance
79.59543
seq distance
279
chain
B
In BRGDA1; dbSNP:rs199473124.
original residue
L
variation residue
Q
position
1194
score
50.0
distance
79.59543
seq distance
279
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
G
position
1193
score
50.0
distance
81.4519
seq distance
278
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473554.
original residue
R
variation residue
Q
position
1193
score
50.0
distance
81.4519
seq distance
278
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
W
position
1193
score
50.0
distance
81.4519
seq distance
278
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344.
original residue
R
variation residue
Q
position
1193
score
100.0
distance
81.4519
seq distance
278
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
G
position
1193
score
50.0
distance
81.4519
seq distance
278
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473554.
original residue
R
variation residue
Q
position
1193
score
50.0
distance
81.4519
seq distance
278
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
W
position
1193
score
50.0
distance
81.4519
seq distance
278
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344.
original residue
R
variation residue
Q
position
1193
score
100.0
distance
81.4519
seq distance
278
chain
B

Details

Redox score
76.73
PDB code
6lqa
Structure name
voltage-gated sodium channel nav1.5 with quinidine
Structure deposition date
2020-01-13
Thiol separation (Å)
2.02
Half-sphere exposure sum
64
Minimum pKa
nan
% buried
nan
Peptide accession
Q14524
Residue number A
906
Residue number B
915
Peptide name
Sodium channel protein type 5 subunit alpha
A redox-regulated disulphide may form within Sodium channel protein type 5 subunit alpha at these cysteines.

Relevent regions

In BRGDA1; unknown pathological significance; dbSNP:rs199473302.
original residue
C
variation residue
R
position
1728
score
100.0
distance
2.792715
seq distance
0
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs193922726.
original residue
C
variation residue
W
position
1728
score
100.0
distance
2.792715
seq distance
0
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473302.
original residue
C
variation residue
R
position
1728
score
100.0
distance
2.792715
seq distance
0
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs193922726.
original residue
C
variation residue
W
position
1728
score
100.0
distance
2.792715
seq distance
0
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473300.
original residue
T
variation residue
N
position
1723
score
100.0
distance
4.514881
seq distance
5
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473300.
original residue
T
variation residue
N
position
1723
score
100.0
distance
4.514881
seq distance
5
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473299.
original residue
N
variation residue
D
position
1722
score
100.0
distance
5.7252655
seq distance
6
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473299.
original residue
N
variation residue
D
position
1722
score
100.0
distance
5.7252655
seq distance
6
chain
B
In BRGDA1; dbSNP:rs199473304.
original residue
G
variation residue
R
position
1740
score
100.0
distance
6.0600753
seq distance
2
chain
B
In BRGDA1; dbSNP:rs199473304.
original residue
G
variation residue
R
position
1740
score
100.0
distance
6.0600753
seq distance
2
chain
B
In BRGDA1; dbSNP:rs199473629.
original residue
G
variation residue
E
position
1743
score
100.0
distance
6.3624487
seq distance
1
chain
B
In BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells; dbSNP:rs199473305.
original residue
G
variation residue
R
position
1743
score
100.0
distance
6.3624487
seq distance
1
chain
B
In BRGDA1; dbSNP:rs199473629.
original residue
G
variation residue
E
position
1743
score
100.0
distance
6.3624487
seq distance
1
chain
B
In BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells; dbSNP:rs199473305.
original residue
G
variation residue
R
position
1743
score
100.0
distance
6.3624487
seq distance
1
chain
B
Phosphoserine
position
1744
score
50.0
distance
8.408292
seq distance
2
chain
B
Phosphoserine
position
1744
score
50.0
distance
8.408292
seq distance
2
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473303.
original residue
R
variation residue
W
position
1739
score
100.0
distance
9.833901
seq distance
3
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473303.
original residue
R
variation residue
W
position
1739
score
100.0
distance
9.833901
seq distance
3
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473294.
original residue
A
variation residue
T
position
1680
score
100.0
distance
11.702531
seq distance
48
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473294.
original residue
A
variation residue
T
position
1680
score
100.0
distance
11.702531
seq distance
48
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; changed voltage dependence for activation and inactivation.
original residue
G
variation residue
D
position
1748
score
100.0
distance
13.323927
seq distance
6
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; changed voltage dependence for activation and inactivation.
original residue
G
variation residue
D
position
1748
score
100.0
distance
13.323927
seq distance
6
chain
B
In LQT3; dbSNP:rs199473043.
original residue
G
variation residue
V
position
319
score
50.0
distance
15.649452
seq distance
1409
chain
B
In BRGDA1; dbSNP:rs199473090.
original residue
G
variation residue
S
position
319
score
100.0
distance
15.649452
seq distance
1409
chain
B
In LQT3; dbSNP:rs199473043.
original residue
G
variation residue
V
position
319
score
50.0
distance
15.649452
seq distance
1409
chain
B
In BRGDA1; dbSNP:rs199473090.
original residue
G
variation residue
S
position
319
score
100.0
distance
15.649452
seq distance
1409
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; no effect on voltage dependence for activation and inactivation; dbSNP:rs1060499900.
original residue
D
variation residue
N
position
1690
score
100.0
distance
16.093864
seq distance
38
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; no effect on voltage dependence for activation and inactivation; dbSNP:rs1060499900.
original residue
D
variation residue
N
position
1690
score
100.0
distance
16.093864
seq distance
38
chain
B
In BRGDA1; strong decrease of current density; does not affect ion selectivity properties; dbSNP:rs199473628.
original residue
D
variation residue
G
position
1714
score
100.0
distance
17.470984
seq distance
14
chain
B
In BRGDA1; strong decrease of current density; does not affect ion selectivity properties; dbSNP:rs199473628.
original residue
D
variation residue
G
position
1714
score
100.0
distance
17.470984
seq distance
14
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473091.
original residue
T
variation residue
N
position
320
score
100.0
distance
18.945866
seq distance
1408
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473091.
original residue
T
variation residue
N
position
320
score
100.0
distance
18.945866
seq distance
1408
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473237.
original residue
C
variation residue
Y
position
1363
score
100.0
distance
19.511108
seq distance
365
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473237.
original residue
C
variation residue
Y
position
1363
score
100.0
distance
19.511108
seq distance
365
chain
B
In LQT3; dbSNP:rs199473603.
original residue
T
variation residue
M
position
1304
score
100.0
distance
20.334997
seq distance
424
chain
B
In LQT3; dbSNP:rs199473603.
original residue
T
variation residue
M
position
1304
score
100.0
distance
20.334997
seq distance
424
chain
B
In SSS1; dbSNP:rs28937319.
original residue
P
variation residue
L
position
1298
score
100.0
distance
20.523819
seq distance
430
chain
B
In SSS1; dbSNP:rs28937319.
original residue
P
variation residue
L
position
1298
score
100.0
distance
20.523819
seq distance
430
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473611.
original residue
G
variation residue
R
position
1420
score
100.0
distance
20.819746
seq distance
308
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473611.
original residue
G
variation residue
R
position
1420
score
100.0
distance
20.819746
seq distance
308
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473205.
original residue
Y
variation residue
H
position
1228
score
100.0
distance
20.89411
seq distance
500
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473205.
original residue
Y
variation residue
H
position
1228
score
100.0
distance
20.89411
seq distance
500
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473298.
original residue
G
variation residue
S
position
1712
score
100.0
distance
20.974663
seq distance
16
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473298.
original residue
G
variation residue
S
position
1712
score
100.0
distance
20.974663
seq distance
16
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473236.
original residue
F
variation residue
C
position
1360
score
100.0
distance
21.156424
seq distance
368
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473236.
original residue
F
variation residue
C
position
1360
score
100.0
distance
21.156424
seq distance
368
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473626.
original residue
S
variation residue
Y
position
1672
score
100.0
distance
21.204462
seq distance
56
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473626.
original residue
S
variation residue
Y
position
1672
score
100.0
distance
21.204462
seq distance
56
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473609.
original residue
G
variation residue
E
position
1406
score
100.0
distance
22.23625
seq distance
322
chain
B
In BRGDA1; dbSNP:rs199473240.
original residue
G
variation residue
R
position
1406
score
100.0
distance
22.23625
seq distance
322
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473609.
original residue
G
variation residue
E
position
1406
score
100.0
distance
22.23625
seq distance
322
chain
B
In BRGDA1; dbSNP:rs199473240.
original residue
G
variation residue
R
position
1406
score
100.0
distance
22.23625
seq distance
322
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473204.
original residue
E
variation residue
K
position
1225
score
100.0
distance
22.476307
seq distance
503
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473204.
original residue
E
variation residue
K
position
1225
score
100.0
distance
22.476307
seq distance
503
chain
B
In SSS1 and BRGDA1; dbSNP:rs137854612.
original residue
G
variation residue
R
position
1408
score
100.0
distance
22.930447
seq distance
320
chain
B
In SSS1 and BRGDA1; dbSNP:rs137854612.
original residue
G
variation residue
R
position
1408
score
100.0
distance
22.930447
seq distance
320
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473244.
original residue
A
variation residue
S
position
1427
score
100.0
distance
22.956814
seq distance
301
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473244.
original residue
A
variation residue
S
position
1427
score
100.0
distance
22.956814
seq distance
301
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473234.
original residue
G
variation residue
W
position
1358
score
100.0
distance
23.190327
seq distance
370
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473234.
original residue
G
variation residue
W
position
1358
score
100.0
distance
23.190327
seq distance
370
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473242.
original residue
K
variation residue
E
position
1419
score
100.0
distance
23.273598
seq distance
309
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473242.
original residue
K
variation residue
E
position
1419
score
100.0
distance
23.273598
seq distance
309
chain
B
In BRGDA1; severe reduction of sodium currents; dbSNP:rs199473093.
original residue
P
variation residue
L
position
336
score
100.0
distance
23.597383
seq distance
1392
chain
B
In BRGDA1; severe reduction of sodium currents; dbSNP:rs199473093.
original residue
P
variation residue
L
position
336
score
100.0
distance
23.597383
seq distance
1392
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473295.
original residue
A
variation residue
T
position
1698
score
100.0
distance
23.695906
seq distance
30
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473295.
original residue
A
variation residue
T
position
1698
score
100.0
distance
23.695906
seq distance
30
chain
B
In LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation; dbSNP:rs199473218.
original residue
E
variation residue
K
position
1295
score
100.0
distance
23.76639
seq distance
433
chain
B
In LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation; dbSNP:rs199473218.
original residue
E
variation residue
K
position
1295
score
100.0
distance
23.76639
seq distance
433
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473610.
original residue
Y
variation residue
C
position
1409
score
100.0
distance
23.825268
seq distance
319
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473610.
original residue
Y
variation residue
C
position
1409
score
100.0
distance
23.825268
seq distance
319
chain
B
In LQT3; dbSNP:rs199473598.
original residue
E
variation residue
K
position
1231
score
100.0
distance
24.17809
seq distance
497
chain
B
In LQT3; dbSNP:rs199473598.
original residue
E
variation residue
K
position
1231
score
100.0
distance
24.17809
seq distance
497
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473235.
original residue
K
variation residue
N
position
1359
score
100.0
distance
24.492977
seq distance
369
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473235.
original residue
K
variation residue
N
position
1359
score
100.0
distance
24.492977
seq distance
369
chain
B
In BRGDA1; dbSNP:rs199473239.
original residue
V
variation residue
L
position
1405
score
100.0
distance
24.783583
seq distance
323
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473239.
original residue
V
variation residue
M
position
1405
score
100.0
distance
24.783583
seq distance
323
chain
B
In BRGDA1; dbSNP:rs199473239.
original residue
V
variation residue
L
position
1405
score
100.0
distance
24.783583
seq distance
323
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473239.
original residue
V
variation residue
M
position
1405
score
100.0
distance
24.783583
seq distance
323
chain
B
In dbSNP:rs199473100.
original residue
R
variation residue
C
position
376
score
100.0
distance
24.89398
seq distance
1352
chain
B
In BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation; dbSNP:rs199473101.
original residue
R
variation residue
H
position
376
score
100.0
distance
24.89398
seq distance
1352
chain
B
In dbSNP:rs199473100.
original residue
R
variation residue
C
position
376
score
100.0
distance
24.89398
seq distance
1352
chain
B
In BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation; dbSNP:rs199473101.
original residue
R
variation residue
H
position
376
score
100.0
distance
24.89398
seq distance
1352
chain
B
In VF1; dbSNP:rs137854604.
original residue
S
variation residue
L
position
1710
score
100.0
distance
24.96897
seq distance
18
chain
B
In VF1; dbSNP:rs137854604.
original residue
S
variation residue
L
position
1710
score
100.0
distance
24.96897
seq distance
18
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473564.
original residue
L
variation residue
P
position
315
score
100.0
distance
24.984037
seq distance
1413
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473564.
original residue
L
variation residue
P
position
315
score
100.0
distance
24.984037
seq distance
1413
chain
B
In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation; dbSNP:rs199473627.
original residue
F
variation residue
S
position
1705
score
100.0
distance
25.040346
seq distance
23
chain
B
In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation; dbSNP:rs199473627.
original residue
F
variation residue
S
position
1705
score
100.0
distance
25.040346
seq distance
23
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473241.
original residue
L
variation residue
F
position
1412
score
100.0
distance
25.127655
seq distance
316
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473241.
original residue
L
variation residue
F
position
1412
score
100.0
distance
25.127655
seq distance
316
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473248.
original residue
P
variation residue
L
position
1438
score
100.0
distance
25.658588
seq distance
290
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473248.
original residue
P
variation residue
L
position
1438
score
100.0
distance
25.658588
seq distance
290
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473612.
original residue
A
variation residue
V
position
1428
score
100.0
distance
25.960642
seq distance
300
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473612.
original residue
A
variation residue
V
position
1428
score
100.0
distance
25.960642
seq distance
300
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473092.
original residue
L
variation residue
R
position
325
score
100.0
distance
26.446383
seq distance
1403
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473092.
original residue
L
variation residue
R
position
325
score
100.0
distance
26.446383
seq distance
1403
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473206.
original residue
R
variation residue
Q
position
1232
score
100.0
distance
26.531454
seq distance
496
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473207.
original residue
R
variation residue
W
position
1232
score
100.0
distance
26.531454
seq distance
496
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473206.
original residue
R
variation residue
Q
position
1232
score
100.0
distance
26.531454
seq distance
496
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473207.
original residue
R
variation residue
W
position
1232
score
100.0
distance
26.531454
seq distance
496
chain
B
In BRGDA1; dbSNP:rs199473608.
original residue
S
variation residue
I
position
1382
score
100.0
distance
26.549892
seq distance
346
chain
B
In BRGDA1; dbSNP:rs199473608.
original residue
S
variation residue
I
position
1382
score
100.0
distance
26.549892
seq distance
346
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473233.
original residue
V
variation residue
M
position
1353
score
100.0
distance
27.124214
seq distance
375
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473233.
original residue
V
variation residue
M
position
1353
score
100.0
distance
27.124214
seq distance
375
chain
B
Associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031.
original residue
L
variation residue
F
position
1308
score
100.0
distance
27.462503
seq distance
420
chain
B
Associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031.
original residue
L
variation residue
F
position
1308
score
100.0
distance
27.462503
seq distance
420
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
M
position
1709
score
100.0
distance
27.649523
seq distance
19
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
R
position
1709
score
100.0
distance
27.649523
seq distance
19
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
M
position
1709
score
100.0
distance
27.649523
seq distance
19
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
R
position
1709
score
100.0
distance
27.649523
seq distance
19
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473293.
original residue
V
variation residue
I
position
1667
score
100.0
distance
28.033802
seq distance
61
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473293.
original residue
V
variation residue
I
position
1667
score
100.0
distance
28.033802
seq distance
61
chain
B
In BRGDA1; dbSNP:rs199473208.
original residue
K
variation residue
N
position
1236
score
100.0
distance
28.145971
seq distance
492
chain
B
In BRGDA1; dbSNP:rs199473208.
original residue
K
variation residue
N
position
1236
score
100.0
distance
28.145971
seq distance
492
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473566.
original residue
W
variation residue
G
position
374
score
100.0
distance
28.306707
seq distance
1354
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473566.
original residue
W
variation residue
G
position
374
score
100.0
distance
28.306707
seq distance
1354
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473567.
original residue
G
variation residue
E
position
386
score
100.0
distance
29.450075
seq distance
1342
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473102.
original residue
G
variation residue
R
position
386
score
100.0
distance
29.450075
seq distance
1342
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473567.
original residue
G
variation residue
E
position
386
score
100.0
distance
29.450075
seq distance
1342
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473102.
original residue
G
variation residue
R
position
386
score
100.0
distance
29.450075
seq distance
1342
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs41311127.
original residue
F
variation residue
S
position
1293
score
100.0
distance
29.584055
seq distance
435
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs41311127.
original residue
F
variation residue
S
position
1293
score
100.0
distance
29.584055
seq distance
435
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473217.
original residue
A
variation residue
G
position
1288
score
100.0
distance
29.840254
seq distance
440
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473217.
original residue
A
variation residue
G
position
1288
score
100.0
distance
29.840254
seq distance
440
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473045.
original residue
R
variation residue
H
position
1432
score
54.54545454545454
distance
29.841635
seq distance
296
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473245.
original residue
R
variation residue
G
position
1432
score
100.0
distance
29.841635
seq distance
296
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473246.
original residue
R
variation residue
S
position
1432
score
100.0
distance
29.841635
seq distance
296
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473045.
original residue
R
variation residue
H
position
1432
score
54.54545454545454
distance
29.841635
seq distance
296
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473245.
original residue
R
variation residue
G
position
1432
score
100.0
distance
29.841635
seq distance
296
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473246.
original residue
R
variation residue
S
position
1432
score
100.0
distance
29.841635
seq distance
296
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473247.
original residue
G
variation residue
V
position
1433
score
100.0
distance
29.985296
seq distance
295
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473247.
original residue
G
variation residue
V
position
1433
score
100.0
distance
29.985296
seq distance
295
chain
B
In BRGDA1; dbSNP:rs137854611.
original residue
A
variation residue
E
position
735
score
100.0
distance
30.428364
seq distance
993
chain
B
In BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs137854611.
original residue
A
variation residue
V
position
735
score
100.0
distance
30.428364
seq distance
993
chain
B
In BRGDA1; dbSNP:rs137854611.
original residue
A
variation residue
E
position
735
score
100.0
distance
30.428364
seq distance
993
chain
B
In BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs137854611.
original residue
A
variation residue
V
position
735
score
100.0
distance
30.428364
seq distance
993
chain
B
In BRGDA1; dbSNP:rs199473168.
original residue
R
variation residue
C
position
878
score
100.0
distance
30.525547
seq distance
850
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473587.
original residue
R
variation residue
H
position
878
score
100.0
distance
30.525547
seq distance
850
chain
B
In BRGDA1; dbSNP:rs199473168.
original residue
R
variation residue
C
position
878
score
100.0
distance
30.525547
seq distance
850
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473587.
original residue
R
variation residue
H
position
878
score
100.0
distance
30.525547
seq distance
850
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473210.
original residue
L
variation residue
P
position
1239
score
100.0
distance
30.681538
seq distance
489
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473210.
original residue
L
variation residue
P
position
1239
score
100.0
distance
30.681538
seq distance
489
chain
B
In dbSNP:rs199473211.
original residue
E
variation residue
Q
position
1240
score
100.0
distance
30.789824
seq distance
488
chain
B
In dbSNP:rs199473211.
original residue
E
variation residue
Q
position
1240
score
100.0
distance
30.789824
seq distance
488
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473230.
original residue
L
variation residue
I
position
1346
score
100.0
distance
30.956013
seq distance
382
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473231.
original residue
L
variation residue
P
position
1346
score
100.0
distance
30.956013
seq distance
382
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473230.
original residue
L
variation residue
I
position
1346
score
100.0
distance
30.956013
seq distance
382
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473231.
original residue
L
variation residue
P
position
1346
score
100.0
distance
30.956013
seq distance
382
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473597.
original residue
S
variation residue
N
position
1219
score
100.0
distance
31.056421
seq distance
509
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473597.
original residue
S
variation residue
N
position
1219
score
100.0
distance
31.056421
seq distance
509
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473174.
original residue
E
variation residue
K
position
901
score
100.0
distance
31.075903
seq distance
827
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473174.
original residue
E
variation residue
K
position
901
score
100.0
distance
31.075903
seq distance
827
chain
B
In dbSNP:rs199473191.
original residue
V
variation residue
L
position
1284
score
50.0
distance
31.130497
seq distance
444
chain
B
In dbSNP:rs199473191.
original residue
V
variation residue
L
position
1284
score
50.0
distance
31.130497
seq distance
444
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473094.
original residue
R
variation residue
W
position
340
score
100.0
distance
31.157187
seq distance
1388
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473094.
original residue
R
variation residue
W
position
340
score
100.0
distance
31.157187
seq distance
1388
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473082.
original residue
R
variation residue
C
position
282
score
100.0
distance
31.30531
seq distance
1446
chain
B
In BRGDA1; dbSNP:rs199473083.
original residue
R
variation residue
H
position
282
score
100.0
distance
31.30531
seq distance
1446
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473082.
original residue
R
variation residue
C
position
282
score
100.0
distance
31.30531
seq distance
1446
chain
B
In BRGDA1; dbSNP:rs199473083.
original residue
R
variation residue
H
position
282
score
100.0
distance
31.30531
seq distance
1446
chain
B
In dbSNP:rs41313697.
original residue
L
variation residue
V
position
1286
score
54.54545454545454
distance
31.54734
seq distance
442
chain
B
In dbSNP:rs41313697.
original residue
L
variation residue
V
position
1286
score
54.54545454545454
distance
31.54734
seq distance
442
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473232.
original residue
M
variation residue
R
position
1351
score
100.0
distance
31.701704
seq distance
377
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473232.
original residue
M
variation residue
R
position
1351
score
100.0
distance
31.701704
seq distance
377
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473562.
original residue
H
variation residue
D
position
278
score
100.0
distance
31.95539
seq distance
1450
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473562.
original residue
H
variation residue
D
position
278
score
100.0
distance
31.95539
seq distance
1450
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473249.
original residue
E
variation residue
Q
position
1441
score
100.0
distance
31.964624
seq distance
287
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473249.
original residue
E
variation residue
Q
position
1441
score
100.0
distance
31.964624
seq distance
287
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473599.
original residue
D
variation residue
N
position
1243
score
100.0
distance
32.09474
seq distance
485
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473599.
original residue
D
variation residue
N
position
1243
score
100.0
distance
32.09474
seq distance
485
chain
B
In BRGDA1.
original residue
variation residue
position
393
score
100.0
distance
32.25075
seq distance
1335
chain
B
In BRGDA1.
original residue
variation residue
position
393
score
100.0
distance
32.25075
seq distance
1335
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473219.
original residue
L
variation residue
P
position
1311
score
100.0
distance
32.553265
seq distance
417
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473219.
original residue
L
variation residue
P
position
1311
score
100.0
distance
32.553265
seq distance
417
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473081.
original residue
L
variation residue
Q
position
276
score
100.0
distance
32.85272
seq distance
1452
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473081.
original residue
L
variation residue
Q
position
276
score
100.0
distance
32.85272
seq distance
1452
chain
B
In LQT3; dbSNP:rs199473253.
original residue
S
variation residue
Y
position
1458
score
100.0
distance
32.87485
seq distance
270
chain
B
In LQT3; dbSNP:rs199473253.
original residue
S
variation residue
Y
position
1458
score
100.0
distance
32.87485
seq distance
270
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473307.
original residue
L
variation residue
F
position
1761
score
100.0
distance
33.042034
seq distance
19
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473308.
original residue
L
variation residue
H
position
1761
score
100.0
distance
33.042034
seq distance
19
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473307.
original residue
L
variation residue
F
position
1761
score
100.0
distance
33.042034
seq distance
19
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473308.
original residue
L
variation residue
H
position
1761
score
100.0
distance
33.042034
seq distance
19
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473227.
original residue
L
variation residue
V
position
1338
score
100.0
distance
33.12653
seq distance
390
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473227.
original residue
L
variation residue
V
position
1338
score
100.0
distance
33.12653
seq distance
390
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473613.
original residue
Y
variation residue
C
position
1449
score
100.0
distance
33.310932
seq distance
279
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473613.
original residue
Y
variation residue
C
position
1449
score
100.0
distance
33.310932
seq distance
279
chain
B
May confer susceptibility to acquired arrhythmia; dbSNP:rs7626962.
original residue
S
variation residue
Y
position
1218
score
50.0
distance
33.37668
seq distance
510
chain
B
May confer susceptibility to acquired arrhythmia; dbSNP:rs7626962.
original residue
S
variation residue
Y
position
1218
score
50.0
distance
33.37668
seq distance
510
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473216.
original residue
L
variation residue
M
position
1283
score
100.0
distance
33.50654
seq distance
445
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473216.
original residue
L
variation residue
M
position
1283
score
100.0
distance
33.50654
seq distance
445
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473582.
original residue
E
variation residue
K
position
746
score
100.0
distance
33.622715
seq distance
982
chain
B
In dbSNP:rs199473193.
original residue
E
variation residue
K
position
746
score
50.0
distance
33.622715
seq distance
982
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473582.
original residue
E
variation residue
K
position
746
score
100.0
distance
33.622715
seq distance
982
chain
B
In dbSNP:rs199473193.
original residue
E
variation residue
K
position
746
score
50.0
distance
33.622715
seq distance
982
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473105.
original residue
I
variation residue
T
position
397
score
100.0
distance
33.73821
seq distance
1331
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473105.
original residue
I
variation residue
T
position
397
score
100.0
distance
33.73821
seq distance
1331
chain
B
In LQT3; dbSNP:rs199473631.
original residue
V
variation residue
M
position
1763
score
100.0
distance
33.790016
seq distance
21
chain
B
In LQT3; dbSNP:rs199473631.
original residue
V
variation residue
M
position
1763
score
100.0
distance
33.790016
seq distance
21
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473171.
original residue
R
variation residue
C
position
893
score
100.0
distance
33.860214
seq distance
835
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473172.
original residue
R
variation residue
H
position
893
score
100.0
distance
33.860214
seq distance
835
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473171.
original residue
R
variation residue
C
position
893
score
100.0
distance
33.860214
seq distance
835
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473172.
original residue
R
variation residue
H
position
893
score
100.0
distance
33.860214
seq distance
835
chain
B
In BRGDA1; dbSNP:rs199473173.
original residue
C
variation residue
S
position
896
score
100.0
distance
33.91015
seq distance
832
chain
B
In BRGDA1; dbSNP:rs199473173.
original residue
C
variation residue
S
position
896
score
100.0
distance
33.91015
seq distance
832
chain
B
In LQT3; dbSNP:rs199473321.
original residue
D
variation residue
G
position
1280
score
50.0
distance
33.935818
seq distance
448
chain
B
In LQT3; dbSNP:rs199473321.
original residue
D
variation residue
G
position
1280
score
50.0
distance
33.935818
seq distance
448
chain
B
In BRGDA1; dbSNP:rs199473096.
original residue
T
variation residue
I
position
353
score
100.0
distance
34.03206
seq distance
1375
chain
B
In BRGDA1; dbSNP:rs199473096.
original residue
T
variation residue
I
position
353
score
100.0
distance
34.03206
seq distance
1375
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473252.
original residue
V
variation residue
D
position
1451
score
100.0
distance
34.395477
seq distance
277
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473252.
original residue
V
variation residue
D
position
1451
score
100.0
distance
34.395477
seq distance
277
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473228.
original residue
F
variation residue
L
position
1344
score
100.0
distance
34.59127
seq distance
384
chain
B
In BRGDA1; dbSNP:rs199473229.
original residue
F
variation residue
S
position
1344
score
100.0
distance
34.59127
seq distance
384
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473228.
original residue
F
variation residue
L
position
1344
score
100.0
distance
34.59127
seq distance
384
chain
B
In BRGDA1; dbSNP:rs199473229.
original residue
F
variation residue
S
position
1344
score
100.0
distance
34.59127
seq distance
384
chain
B
In BRGDA1 and LQT3; express no current; dbSNP:rs199473097.
original residue
R
variation residue
C
position
367
score
100.0
distance
35.00063
seq distance
1361
chain
B
In BRGDA1; express no current; dbSNP:rs28937318.
original residue
R
variation residue
H
position
367
score
100.0
distance
35.00063
seq distance
1361
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs28937318.
original residue
R
variation residue
L
position
367
score
100.0
distance
35.00063
seq distance
1361
chain
B
In BRGDA1 and LQT3; express no current; dbSNP:rs199473097.
original residue
R
variation residue
C
position
367
score
100.0
distance
35.00063
seq distance
1361
chain
B
In BRGDA1; express no current; dbSNP:rs28937318.
original residue
R
variation residue
H
position
367
score
100.0
distance
35.00063
seq distance
1361
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs28937318.
original residue
R
variation residue
L
position
367
score
100.0
distance
35.00063
seq distance
1361
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473080.
original residue
N
variation residue
K
position
275
score
100.0
distance
35.293766
seq distance
1453
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473080.
original residue
N
variation residue
K
position
275
score
100.0
distance
35.293766
seq distance
1453
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473099.
original residue
T
variation residue
M
position
370
score
100.0
distance
35.425064
seq distance
1358
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473099.
original residue
T
variation residue
M
position
370
score
100.0
distance
35.425064
seq distance
1358
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473250.
original residue
I
variation residue
L
position
1448
score
100.0
distance
35.426476
seq distance
280
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473251.
original residue
I
variation residue
T
position
1448
score
100.0
distance
35.426476
seq distance
280
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473250.
original residue
I
variation residue
L
position
1448
score
100.0
distance
35.426476
seq distance
280
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473251.
original residue
I
variation residue
T
position
1448
score
100.0
distance
35.426476
seq distance
280
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473095.
original residue
G
variation residue
D
position
351
score
100.0
distance
35.709393
seq distance
1377
chain
B
In BRGDA1; 7-fold current reduction; dbSNP:rs199473095.
original residue
G
variation residue
V
position
351
score
100.0
distance
35.709393
seq distance
1377
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473095.
original residue
G
variation residue
D
position
351
score
100.0
distance
35.709393
seq distance
1377
chain
B
In BRGDA1; 7-fold current reduction; dbSNP:rs199473095.
original residue
G
variation residue
V
position
351
score
100.0
distance
35.709393
seq distance
1377
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473292.
original residue
G
variation residue
R
position
1661
score
100.0
distance
35.786125
seq distance
67
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473292.
original residue
G
variation residue
R
position
1661
score
100.0
distance
35.786125
seq distance
67
chain
B
In LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation; dbSNP:rs794728898.
original residue
H
variation residue
R
position
880
score
50.0
distance
36.122524
seq distance
848
chain
B
In LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation; dbSNP:rs794728898.
original residue
H
variation residue
R
position
880
score
50.0
distance
36.122524
seq distance
848
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473226.
original residue
I
variation residue
V
position
1334
score
100.0
distance
36.15961
seq distance
394
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473226.
original residue
I
variation residue
V
position
1334
score
100.0
distance
36.15961
seq distance
394
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473150.
original residue
T
variation residue
I
position
731
score
100.0
distance
36.18329
seq distance
997
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473150.
original residue
T
variation residue
I
position
731
score
100.0
distance
36.18329
seq distance
997
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473309.
original residue
V
variation residue
F
position
1764
score
100.0
distance
36.231976
seq distance
22
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473309.
original residue
V
variation residue
F
position
1764
score
100.0
distance
36.231976
seq distance
22
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473103.
original residue
V
variation residue
A
position
396
score
100.0
distance
36.30777
seq distance
1332
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473104.
original residue
V
variation residue
L
position
396
score
100.0
distance
36.30777
seq distance
1332
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473103.
original residue
V
variation residue
A
position
396
score
100.0
distance
36.30777
seq distance
1332
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473104.
original residue
V
variation residue
L
position
396
score
100.0
distance
36.30777
seq distance
1332
chain
B
In BRGDA1; dbSNP:rs199473098.
original residue
M
variation residue
K
position
369
score
100.0
distance
36.4567
seq distance
1359
chain
B
In BRGDA1; dbSNP:rs199473098.
original residue
M
variation residue
K
position
369
score
100.0
distance
36.4567
seq distance
1359
chain
B
Phosphoserine
position
805
score
59.09090909090909
distance
36.81762
seq distance
923
chain
B
Phosphoserine
position
805
score
59.09090909090909
distance
36.81762
seq distance
923
chain
B
In BRGDA1; dbSNP:rs199473170.
original residue
F
variation residue
I
position
892
score
100.0
distance
36.84551
seq distance
836
chain
B
In BRGDA1; dbSNP:rs199473170.
original residue
F
variation residue
I
position
892
score
100.0
distance
36.84551
seq distance
836
chain
B
In CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials; dbSNP:rs137854618.
original residue
D
variation residue
N
position
1275
score
100.0
distance
36.951725
seq distance
453
chain
B
In CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials; dbSNP:rs137854618.
original residue
D
variation residue
N
position
1275
score
100.0
distance
36.951725
seq distance
453
chain
B
In PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance; dbSNP:rs137854608.
original residue
G
variation residue
S
position
298
score
100.0
distance
37.33309
seq distance
1430
chain
B
In PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance; dbSNP:rs137854608.
original residue
G
variation residue
S
position
298
score
100.0
distance
37.33309
seq distance
1430
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473169.
original residue
H
variation residue
P
position
886
score
100.0
distance
37.609577
seq distance
842
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473169.
original residue
H
variation residue
P
position
886
score
100.0
distance
37.609577
seq distance
842
chain
B
In BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane; dbSNP:rs199473625.
original residue
I
variation residue
V
position
1660
score
100.0
distance
37.613007
seq distance
68
chain
B
In BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane; dbSNP:rs199473625.
original residue
I
variation residue
V
position
1660
score
100.0
distance
37.613007
seq distance
68
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473160.
original residue
R
variation residue
P
position
808
score
100.0
distance
37.95381
seq distance
920
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473160.
original residue
R
variation residue
P
position
808
score
100.0
distance
37.95381
seq distance
920
chain
B
In BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no domiFalset negative effect.
original residue
L
variation residue
Q
position
812
score
100.0
distance
38.25973
seq distance
916
chain
B
In BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no domiFalset negative effect.
original residue
L
variation residue
Q
position
812
score
100.0
distance
38.25973
seq distance
916
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473152.
original residue
Q
variation residue
R
position
750
score
100.0
distance
38.65207
seq distance
978
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473152.
original residue
Q
variation residue
R
position
750
score
100.0
distance
38.65207
seq distance
978
chain
B
In LQT3; affects protein trafficking; dbSNP:rs199473310.
original residue
M
variation residue
L
position
1766
score
100.0
distance
38.792282
seq distance
24
chain
B
In LQT3; affects protein trafficking; dbSNP:rs199473310.
original residue
M
variation residue
L
position
1766
score
100.0
distance
38.792282
seq distance
24
chain
B
In LQT3; drug-induced LQT syndrome; dbSNP:rs45589741.
original residue
F
variation residue
L
position
1250
score
100.0
distance
39.020645
seq distance
478
chain
B
In LQT3; drug-induced LQT syndrome; dbSNP:rs45589741.
original residue
F
variation residue
L
position
1250
score
100.0
distance
39.020645
seq distance
478
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473225.
original residue
P
variation residue
L
position
1332
score
100.0
distance
39.302734
seq distance
396
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473225.
original residue
P
variation residue
L
position
1332
score
100.0
distance
39.302734
seq distance
396
chain
B
In dbSNP:rs199473087.
original residue
L
variation residue
M
position
299
score
100.0
distance
39.47935
seq distance
1429
chain
B
In dbSNP:rs199473087.
original residue
L
variation residue
M
position
299
score
100.0
distance
39.47935
seq distance
1429
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473614.
original residue
N
variation residue
Y
position
1463
score
100.0
distance
39.58941
seq distance
265
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473614.
original residue
N
variation residue
Y
position
1463
score
100.0
distance
39.58941
seq distance
265
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473221.
original residue
V
variation residue
G
position
1323
score
100.0
distance
39.79947
seq distance
405
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473221.
original residue
V
variation residue
G
position
1323
score
100.0
distance
39.79947
seq distance
405
chain
B
In LQT3 and SIDS; dbSNP:rs199473604.
original residue
S
variation residue
Y
position
1333
score
100.0
distance
39.827312
seq distance
395
chain
B
In LQT3 and SIDS; dbSNP:rs199473604.
original residue
S
variation residue
Y
position
1333
score
100.0
distance
39.827312
seq distance
395
chain
B
In dbSNP:rs199473600.
original residue
V
variation residue
M
position
1251
score
100.0
distance
39.965836
seq distance
477
chain
B
In dbSNP:rs199473600.
original residue
V
variation residue
M
position
1251
score
100.0
distance
39.965836
seq distance
477
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473153.
original residue
G
variation residue
R
position
752
score
100.0
distance
40.047974
seq distance
976
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473153.
original residue
G
variation residue
R
position
752
score
100.0
distance
40.047974
seq distance
976
chain
B
In LQT3 and PFHB1A; dbSNP:rs199473282.
original residue
T
variation residue
K
position
1620
score
100.0
distance
40.33656
seq distance
108
chain
B
In BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range; dbSNP:rs199473282.
original residue
T
variation residue
M
position
1620
score
100.0
distance
40.33656
seq distance
108
chain
B
In LQT3 and PFHB1A; dbSNP:rs199473282.
original residue
T
variation residue
K
position
1620
score
100.0
distance
40.33656
seq distance
108
chain
B
In BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range; dbSNP:rs199473282.
original residue
T
variation residue
M
position
1620
score
100.0
distance
40.33656
seq distance
108
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473632.
original residue
Y
variation residue
C
position
1767
score
100.0
distance
40.349243
seq distance
25
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473632.
original residue
Y
variation residue
C
position
1767
score
100.0
distance
40.349243
seq distance
25
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
P
position
1330
score
100.0
distance
40.38788
seq distance
398
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
T
position
1330
score
100.0
distance
40.38788
seq distance
398
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
P
position
1330
score
100.0
distance
40.38788
seq distance
398
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
T
position
1330
score
100.0
distance
40.38788
seq distance
398
chain
B
In BRGDA1; loss of function; dbSNP:rs199473565.
original residue
D
variation residue
N
position
356
score
100.0
distance
40.47043
seq distance
1372
chain
B
In BRGDA1; loss of function; dbSNP:rs199473565.
original residue
D
variation residue
N
position
356
score
100.0
distance
40.47043
seq distance
1372
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473601.
original residue
W
variation residue
C
position
1271
score
100.0
distance
40.523293
seq distance
457
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473601.
original residue
W
variation residue
C
position
1271
score
100.0
distance
40.523293
seq distance
457
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473213.
original residue
V
variation residue
D
position
1249
score
100.0
distance
40.543125
seq distance
479
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473213.
original residue
V
variation residue
D
position
1249
score
100.0
distance
40.543125
seq distance
479
chain
B
In LQT3; dbSNP:rs199473108.
original residue
N
variation residue
K
position
406
score
100.0
distance
40.994797
seq distance
1322
chain
B
In BRGDA1; dbSNP:rs199473568.
original residue
N
variation residue
S
position
406
score
100.0
distance
40.994797
seq distance
1322
chain
B
In LQT3; dbSNP:rs199473108.
original residue
N
variation residue
K
position
406
score
100.0
distance
40.994797
seq distance
1322
chain
B
In BRGDA1; dbSNP:rs199473568.
original residue
N
variation residue
S
position
406
score
100.0
distance
40.994797
seq distance
1322
chain
B
In LQT3; unknown pathological significance; dbSNP:rs794728920.
original residue
variation residue
position
1212
score
100.0
distance
41.327057
seq distance
516
chain
B
In LQT3; unknown pathological significance; dbSNP:rs794728920.
original residue
variation residue
position
1212
score
100.0
distance
41.327057
seq distance
516
chain
B
In LQT3; dbSNP:rs28937317.
original residue
N
variation residue
S
position
1325
score
100.0
distance
41.49349
seq distance
403
chain
B
In LQT3; dbSNP:rs28937317.
original residue
N
variation residue
S
position
1325
score
100.0
distance
41.49349
seq distance
403
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473167.
original residue
E
variation residue
Q
position
867
score
100.0
distance
41.62625
seq distance
861
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473167.
original residue
E
variation residue
Q
position
867
score
100.0
distance
41.62625
seq distance
861
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473222.
original residue
A
variation residue
S
position
1326
score
100.0
distance
41.694183
seq distance
402
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473222.
original residue
A
variation residue
S
position
1326
score
100.0
distance
41.694183
seq distance
402
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473254.
original residue
V
variation residue
F
position
1468
score
100.0
distance
41.91071
seq distance
260
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41315493.
original residue
V
variation residue
L
position
1468
score
54.54545454545454
distance
41.91071
seq distance
260
chain
B
In ATFB10; dbSNP:rs41315493.
original residue
V
variation residue
M
position
1468
score
54.54545454545454
distance
41.91071
seq distance
260
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473254.
original residue
V
variation residue
F
position
1468
score
100.0
distance
41.91071
seq distance
260
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41315493.
original residue
V
variation residue
L
position
1468
score
54.54545454545454
distance
41.91071
seq distance
260
chain
B
In ATFB10; dbSNP:rs41315493.
original residue
V
variation residue
M
position
1468
score
54.54545454545454
distance
41.91071
seq distance
260
chain
B
In LQT3; dbSNP:rs199473107.
original residue
L
variation residue
Q
position
404
score
100.0
distance
41.986916
seq distance
1324
chain
B
In LQT3; dbSNP:rs199473107.
original residue
L
variation residue
Q
position
404
score
100.0
distance
41.986916
seq distance
1324
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473589.
original residue
N
variation residue
S
position
927
score
100.0
distance
42.025208
seq distance
801
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473589.
original residue
N
variation residue
S
position
927
score
100.0
distance
42.025208
seq distance
801
chain
B
In LQT3 and BRGDA1.
original residue
variation residue
position
1617
score
100.0
distance
42.19116
seq distance
111
chain
B
In LQT3 and BRGDA1.
original residue
variation residue
position
1617
score
100.0
distance
42.19116
seq distance
111
chain
B
In BRGDA1; dbSNP:rs199473584.
original residue
R
variation residue
Q
position
814
score
100.0
distance
42.311935
seq distance
914
chain
B
In BRGDA1; dbSNP:rs199473584.
original residue
R
variation residue
Q
position
814
score
100.0
distance
42.311935
seq distance
914
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473088.
original residue
V
variation residue
I
position
300
score
100.0
distance
42.486675
seq distance
1428
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473088.
original residue
V
variation residue
I
position
300
score
100.0
distance
42.486675
seq distance
1428
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473162.
original residue
F
variation residue
Y
position
816
score
100.0
distance
42.489388
seq distance
912
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473162.
original residue
F
variation residue
Y
position
816
score
100.0
distance
42.489388
seq distance
912
chain
B
In BRGDA1; dbSNP:rs199473220.
original residue
G
variation residue
V
position
1319
score
100.0
distance
42.51139
seq distance
409
chain
B
In BRGDA1; dbSNP:rs199473220.
original residue
G
variation residue
V
position
1319
score
100.0
distance
42.51139
seq distance
409
chain
B
In LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve; dbSNP:rs199473311.
original residue
I
variation residue
V
position
1768
score
100.0
distance
42.764946
seq distance
26
chain
B
In LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve; dbSNP:rs199473311.
original residue
I
variation residue
V
position
1768
score
100.0
distance
42.764946
seq distance
26
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473079.
original residue
Q
variation residue
K
position
270
score
100.0
distance
42.891674
seq distance
1458
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473079.
original residue
Q
variation residue
K
position
270
score
100.0
distance
42.891674
seq distance
1458
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473588.
original residue
C
variation residue
R
position
915
score
100.0
distance
43.091263
seq distance
813
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473588.
original residue
C
variation residue
R
position
915
score
100.0
distance
43.091263
seq distance
813
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473214.
original residue
E
variation residue
G
position
1253
score
100.0
distance
43.363213
seq distance
475
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473214.
original residue
E
variation residue
G
position
1253
score
100.0
distance
43.363213
seq distance
475
chain
B
In BRGDA1; dbSNP:rs199473175.
original residue
S
variation residue
L
position
910
score
100.0
distance
43.679832
seq distance
818
chain
B
In BRGDA1; dbSNP:rs199473175.
original residue
S
variation residue
L
position
910
score
100.0
distance
43.679832
seq distance
818
chain
B
In LQT3; dbSNP:rs137854600.
original residue
R
variation residue
L
position
1623
score
100.0
distance
43.722534
seq distance
105
chain
B
In LQT3 and BRGDA1; dbSNP:rs137854600.
original residue
R
variation residue
Q
position
1623
score
100.0
distance
43.722534
seq distance
105
chain
B
In LQT3; dbSNP:rs137854600.
original residue
R
variation residue
L
position
1623
score
100.0
distance
43.722534
seq distance
105
chain
B
In LQT3 and BRGDA1; dbSNP:rs137854600.
original residue
R
variation residue
Q
position
1623
score
100.0
distance
43.722534
seq distance
105
chain
B
In LQT3; dbSNP:rs199473615.
original residue
F
variation residue
L
position
1486
score
100.0
distance
43.833134
seq distance
242
chain
B
In LQT3; dbSNP:rs199473615.
original residue
F
variation residue
L
position
1486
score
100.0
distance
43.833134
seq distance
242
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473109.
original residue
L
variation residue
V
position
409
score
100.0
distance
44.27715
seq distance
1319
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473109.
original residue
L
variation residue
V
position
409
score
100.0
distance
44.27715
seq distance
1319
chain
B
In dbSNP:rs199473177.
original residue
V
variation residue
I
position
924
score
100.0
distance
44.386097
seq distance
804
chain
B
In dbSNP:rs199473177.
original residue
V
variation residue
I
position
924
score
100.0
distance
44.386097
seq distance
804
chain
B
In dbSNP:rs61746118.
original residue
A
variation residue
S
position
286
score
100.0
distance
44.459393
seq distance
1442
chain
B
In dbSNP:rs61746118.
original residue
A
variation residue
S
position
286
score
100.0
distance
44.459393
seq distance
1442
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473255.
original residue
N
variation residue
S
position
1472
score
100.0
distance
44.607403
seq distance
256
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473255.
original residue
N
variation residue
S
position
1472
score
100.0
distance
44.607403
seq distance
256
chain
B
In LQT3; dbSNP:rs199473256.
original residue
F
variation residue
C
position
1473
score
100.0
distance
44.79036
seq distance
255
chain
B
In LQT3; dbSNP:rs199473256.
original residue
F
variation residue
C
position
1473
score
100.0
distance
44.79036
seq distance
255
chain
B
In BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation.
original residue
K
variation residue
E
position
817
score
100.0
distance
45.14564
seq distance
911
chain
B
In BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation.
original residue
K
variation residue
E
position
817
score
100.0
distance
45.14564
seq distance
911
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473056.
original residue
N
variation residue
K
position
1269
score
54.54545454545454
distance
45.159447
seq distance
459
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473056.
original residue
N
variation residue
K
position
1269
score
54.54545454545454
distance
45.159447
seq distance
459
chain
B
In BRGDA1; dbSNP:rs199473086.
original residue
V
variation residue
M
position
294
score
100.0
distance
45.380207
seq distance
1434
chain
B
In BRGDA1; dbSNP:rs199473086.
original residue
V
variation residue
M
position
294
score
100.0
distance
45.380207
seq distance
1434
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473178.
original residue
L
variation residue
P
position
928
score
100.0
distance
45.5327
seq distance
800
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473178.
original residue
L
variation residue
P
position
928
score
100.0
distance
45.5327
seq distance
800
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473179.
original residue
L
variation residue
P
position
935
score
100.0
distance
45.917984
seq distance
793
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473179.
original residue
L
variation residue
P
position
935
score
100.0
distance
45.917984
seq distance
793
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473176.
original residue
L
variation residue
R
position
917
score
100.0
distance
46.030838
seq distance
811
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473176.
original residue
L
variation residue
R
position
917
score
100.0
distance
46.030838
seq distance
811
chain
B
In BRGDA1; dbSNP:rs199473586.
original residue
F
variation residue
L
position
851
score
100.0
distance
46.62099
seq distance
877
chain
B
In BRGDA1; dbSNP:rs199473586.
original residue
F
variation residue
L
position
851
score
100.0
distance
46.62099
seq distance
877
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473258.
original residue
M
variation residue
L
position
1487
score
100.0
distance
46.74829
seq distance
241
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473258.
original residue
M
variation residue
L
position
1487
score
100.0
distance
46.74829
seq distance
241
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473290.
original residue
L
variation residue
F
position
1650
score
100.0
distance
47.35484
seq distance
78
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473290.
original residue
L
variation residue
F
position
1650
score
100.0
distance
47.35484
seq distance
78
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473259.
original residue
T
variation residue
R
position
1488
score
100.0
distance
47.68085
seq distance
240
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473259.
original residue
T
variation residue
R
position
1488
score
100.0
distance
47.68085
seq distance
240
chain
B
Induces accelerated recovery from channel fast inactivation.
original residue
Q
variation residue
K
position
1476
score
100.0
distance
47.902546
seq distance
252
chain
B
Induces accelerated recovery from channel fast inactivation.
original residue
Q
variation residue
K
position
1476
score
100.0
distance
47.902546
seq distance
252
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
H
position
1626
score
100.0
distance
47.97621
seq distance
102
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
P
position
1626
score
100.0
distance
47.97621
seq distance
102
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
H
position
1626
score
100.0
distance
47.97621
seq distance
102
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
P
position
1626
score
100.0
distance
47.97621
seq distance
102
chain
B
In LQT3; also in SIDS; dbSNP:rs137854605.
original residue
S
variation residue
N
position
941
score
81.81818181818183
distance
48.37174
seq distance
787
chain
B
In LQT3; also in SIDS; dbSNP:rs137854605.
original residue
S
variation residue
N
position
941
score
81.81818181818183
distance
48.37174
seq distance
787
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473271.
original residue
E
variation residue
K
position
1548
score
100.0
distance
48.511585
seq distance
180
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473271.
original residue
E
variation residue
K
position
1548
score
100.0
distance
48.511585
seq distance
180
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473569.
original residue
A
variation residue
E
position
413
score
100.0
distance
48.84264
seq distance
1315
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473110.
original residue
A
variation residue
T
position
413
score
100.0
distance
48.84264
seq distance
1315
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473569.
original residue
A
variation residue
E
position
413
score
100.0
distance
48.84264
seq distance
1315
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473110.
original residue
A
variation residue
T
position
413
score
100.0
distance
48.84264
seq distance
1315
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473154.
original residue
G
variation residue
E
position
758
score
100.0
distance
49.022545
seq distance
970
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473154.
original residue
G
variation residue
E
position
758
score
100.0
distance
49.022545
seq distance
970
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473159.
original residue
V
variation residue
I
position
789
score
100.0
distance
49.38417
seq distance
939
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473159.
original residue
V
variation residue
I
position
789
score
100.0
distance
49.38417
seq distance
939
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs137854606.
original residue
G
variation residue
C
position
797
score
50.0
distance
49.569405
seq distance
931
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs137854606.
original residue
G
variation residue
C
position
797
score
50.0
distance
49.569405
seq distance
931
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473166.
original residue
I
variation residue
F
position
848
score
100.0
distance
49.614002
seq distance
880
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473166.
original residue
I
variation residue
F
position
848
score
100.0
distance
49.614002
seq distance
880
chain
B
In LQT3; dbSNP:rs72549410.
original residue
V
variation residue
M
position
411
score
100.0
distance
49.62365
seq distance
1317
chain
B
In LQT3; dbSNP:rs72549410.
original residue
V
variation residue
M
position
411
score
100.0
distance
49.62365
seq distance
1317
chain
B
In LQT3; dbSNP:rs199473291.
original residue
M
variation residue
R
position
1652
score
100.0
distance
50.38853
seq distance
76
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473291.
original residue
M
variation residue
T
position
1652
score
100.0
distance
50.38853
seq distance
76
chain
B
In LQT3; dbSNP:rs199473291.
original residue
M
variation residue
R
position
1652
score
100.0
distance
50.38853
seq distance
76
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473291.
original residue
M
variation residue
T
position
1652
score
100.0
distance
50.38853
seq distance
76
chain
B
In BRGDA1; dbSNP:rs199473289.
original residue
A
variation residue
V
position
1649
score
100.0
distance
50.62458
seq distance
79
chain
B
In LQT3; dbSNP:rs199473330.
original residue
A
variation residue
S
position
1649
score
54.54545454545454
distance
50.62458
seq distance
79
chain
B
In BRGDA1; dbSNP:rs199473289.
original residue
A
variation residue
V
position
1649
score
100.0
distance
50.62458
seq distance
79
chain
B
In LQT3; dbSNP:rs199473330.
original residue
A
variation residue
S
position
1649
score
54.54545454545454
distance
50.62458
seq distance
79
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473084.
original residue
G
variation residue
S
position
289
score
100.0
distance
50.826523
seq distance
1439
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473084.
original residue
G
variation residue
S
position
289
score
100.0
distance
50.826523
seq distance
1439
chain
B
In dbSNP:rs45553235.
original residue
Q
variation residue
K
position
1613
score
50.0
distance
51.218517
seq distance
115
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473281.
original residue
Q
variation residue
L
position
1613
score
100.0
distance
51.218517
seq distance
115
chain
B
In dbSNP:rs45553235.
original residue
Q
variation residue
K
position
1613
score
50.0
distance
51.218517
seq distance
115
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473281.
original residue
Q
variation residue
L
position
1613
score
100.0
distance
51.218517
seq distance
115
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473616.
original residue
E
variation residue
D
position
1489
score
100.0
distance
51.465862
seq distance
239
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473616.
original residue
E
variation residue
D
position
1489
score
100.0
distance
51.465862
seq distance
239
chain
B
In BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation; dbSNP:rs199473180.
original residue
R
variation residue
C
position
1629
score
59.09090909090909
distance
51.533512
seq distance
99
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
H
position
1629
score
59.09090909090909
distance
51.533512
seq distance
99
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
L
position
1629
score
59.09090909090909
distance
51.533512
seq distance
99
chain
B
In BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation; dbSNP:rs199473623.
original residue
R
variation residue
Q
position
1629
score
100.0
distance
51.533512
seq distance
99
chain
B
In BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation; dbSNP:rs199473180.
original residue
R
variation residue
C
position
1629
score
59.09090909090909
distance
51.533512
seq distance
99
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
H
position
1629
score
59.09090909090909
distance
51.533512
seq distance
99
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
L
position
1629
score
59.09090909090909
distance
51.533512
seq distance
99
chain
B
In BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation; dbSNP:rs199473623.
original residue
R
variation residue
Q
position
1629
score
100.0
distance
51.533512
seq distance
99
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs137854616.
original residue
G
variation residue
S
position
1262
score
100.0
distance
51.580143
seq distance
466
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs137854616.
original residue
G
variation residue
S
position
1262
score
100.0
distance
51.580143
seq distance
466
chain
B
4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
original residue
K
variation residue
A
position
1614
score
100.0
distance
51.675636
seq distance
114
chain
B
4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
original residue
K
variation residue
A
position
1614
score
100.0
distance
51.675636
seq distance
114
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473164.
original residue
L
variation residue
P
position
839
score
100.0
distance
51.700333
seq distance
889
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473164.
original residue
L
variation residue
P
position
839
score
100.0
distance
51.700333
seq distance
889
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473078.
original residue
V
variation residue
L
position
247
score
100.0
distance
52.58152
seq distance
1481
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473078.
original residue
V
variation residue
L
position
247
score
100.0
distance
52.58152
seq distance
1481
chain
B
In BRGDA1.
original residue
variation residue
position
1479
score
100.0
distance
52.71009
seq distance
249
chain
B
In BRGDA1.
original residue
variation residue
position
1479
score
100.0
distance
52.71009
seq distance
249
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473061.
original residue
V
variation residue
M
position
146
score
100.0
distance
52.712467
seq distance
1582
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473061.
original residue
V
variation residue
M
position
146
score
100.0
distance
52.712467
seq distance
1582
chain
B
In LQT3; dbSNP:rs199473622.
original residue
S
variation residue
W
position
1609
score
100.0
distance
52.9295
seq distance
119
chain
B
In LQT3; dbSNP:rs199473622.
original residue
S
variation residue
W
position
1609
score
100.0
distance
52.9295
seq distance
119
chain
B
In dbSNP:rs199473563.
original residue
N
variation residue
S
position
291
score
100.0
distance
53.36987
seq distance
1437
chain
B
In dbSNP:rs199473563.
original residue
N
variation residue
S
position
291
score
100.0
distance
53.36987
seq distance
1437
chain
B
In SSS1 and BRGDA1; dbSNP:rs45620037.
original residue
T
variation residue
I
position
220
score
100.0
distance
54.089005
seq distance
1508
chain
B
In SSS1 and BRGDA1; dbSNP:rs45620037.
original residue
T
variation residue
I
position
220
score
100.0
distance
54.089005
seq distance
1508
chain
B
In BRGDA1; dbSNP:rs199473261.
original residue
Y
variation residue
N
position
1494
score
100.0
distance
54.131245
seq distance
234
chain
B
In BRGDA1; dbSNP:rs199473261.
original residue
Y
variation residue
N
position
1494
score
100.0
distance
54.131245
seq distance
234
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473262.
original residue
Y
variation residue
S
position
1495
score
100.0
distance
54.220238
seq distance
233
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473262.
original residue
Y
variation residue
S
position
1495
score
100.0
distance
54.220238
seq distance
233
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473202.
original residue
Y
variation residue
S
position
1199
score
100.0
distance
54.67576
seq distance
529
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473202.
original residue
Y
variation residue
S
position
1199
score
100.0
distance
54.67576
seq distance
529
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473156.
original residue
M
variation residue
R
position
764
score
100.0
distance
54.83781
seq distance
964
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473156.
original residue
M
variation residue
R
position
764
score
100.0
distance
54.83781
seq distance
964
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473560.
original residue
V
variation residue
L
position
223
score
100.0
distance
54.9085
seq distance
1505
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473560.
original residue
V
variation residue
L
position
223
score
100.0
distance
54.9085
seq distance
1505
chain
B
In LQT3; dbSNP:rs199473287.
original residue
R
variation residue
C
position
1644
score
100.0
distance
55.06733
seq distance
84
chain
B
In LQT3; dbSNP:rs28937316.
original residue
R
variation residue
H
position
1644
score
100.0
distance
55.06733
seq distance
84
chain
B
In LQT3; dbSNP:rs199473287.
original residue
R
variation residue
C
position
1644
score
100.0
distance
55.06733
seq distance
84
chain
B
In LQT3; dbSNP:rs28937316.
original residue
R
variation residue
H
position
1644
score
100.0
distance
55.06733
seq distance
84
chain
B
Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
original residue
D
variation residue
A
position
1610
score
100.0
distance
55.203033
seq distance
118
chain
B
High decrease in affinity to the sea anemone toxin anthopleurin-B.
original residue
D
variation residue
R
position
1610
score
100.0
distance
55.203033
seq distance
118
chain
B
Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
original residue
D
variation residue
A
position
1610
score
100.0
distance
55.203033
seq distance
118
chain
B
High decrease in affinity to the sea anemone toxin anthopleurin-B.
original residue
D
variation residue
R
position
1610
score
100.0
distance
55.203033
seq distance
118
chain
B
In LQT3; dbSNP:rs199473288.
original residue
T
variation residue
M
position
1645
score
100.0
distance
55.206184
seq distance
83
chain
B
In LQT3; dbSNP:rs199473288.
original residue
T
variation residue
M
position
1645
score
100.0
distance
55.206184
seq distance
83
chain
B
In LQT3; dbSNP:rs199473314.
original residue
V
variation residue
M
position
1777
score
90.9090909090909
distance
55.267784
seq distance
35
chain
B
In LQT3; dbSNP:rs199473314.
original residue
V
variation residue
M
position
1777
score
90.9090909090909
distance
55.267784
seq distance
35
chain
B
In BRGDA1; dbSNP:rs199473561.
original residue
A
variation residue
V
position
226
score
100.0
distance
55.336357
seq distance
1502
chain
B
In BRGDA1; dbSNP:rs199473561.
original residue
A
variation residue
V
position
226
score
100.0
distance
55.336357
seq distance
1502
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473260.
original residue
K
variation residue
R
position
1493
score
100.0
distance
55.52688
seq distance
235
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473260.
original residue
K
variation residue
R
position
1493
score
100.0
distance
55.52688
seq distance
235
chain
B
In LQT3; dbSNP:rs199473257.
original residue
G
variation residue
E
position
1481
score
100.0
distance
55.550365
seq distance
247
chain
B
In LQT3; dbSNP:rs199473257.
original residue
G
variation residue
E
position
1481
score
100.0
distance
55.550365
seq distance
247
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473076.
original residue
V
variation residue
M
position
240
score
100.0
distance
55.7699
seq distance
1488
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473076.
original residue
V
variation residue
M
position
240
score
100.0
distance
55.7699
seq distance
1488
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473280.
original residue
V
variation residue
M
position
1604
score
100.0
distance
55.806255
seq distance
124
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473280.
original residue
V
variation residue
M
position
1604
score
100.0
distance
55.806255
seq distance
124
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473149.
original residue
P
variation residue
L
position
717
score
100.0
distance
55.81239
seq distance
1011
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473149.
original residue
P
variation residue
L
position
717
score
100.0
distance
55.81239
seq distance
1011
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473624.
original residue
G
variation residue
E
position
1642
score
100.0
distance
55.926403
seq distance
86
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473624.
original residue
G
variation residue
E
position
1642
score
100.0
distance
55.926403
seq distance
86
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473619.
original residue
L
variation residue
F
position
1560
score
100.0
distance
56.031895
seq distance
168
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473619.
original residue
L
variation residue
F
position
1560
score
100.0
distance
56.031895
seq distance
168
chain
B
Rare variant found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41276525.
original residue
S
variation residue
L
position
216
score
100.0
distance
56.304745
seq distance
1512
chain
B
Rare variant found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41276525.
original residue
S
variation residue
L
position
216
score
100.0
distance
56.304745
seq distance
1512
chain
B
Found in a patient with long QT syndrome; unknown pathological significance; dbSNP:rs199473263.
original residue
M
variation residue
T
position
1498
score
100.0
distance
56.42047
seq distance
230
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473264.
original residue
M
variation residue
V
position
1498
score
100.0
distance
56.42047
seq distance
230
chain
B
Found in a patient with long QT syndrome; unknown pathological significance; dbSNP:rs199473263.
original residue
M
variation residue
T
position
1498
score
100.0
distance
56.42047
seq distance
230
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473264.
original residue
M
variation residue
V
position
1498
score
100.0
distance
56.42047
seq distance
230
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473052.
original residue
F
variation residue
S
position
221
score
50.0
distance
56.87444
seq distance
1507
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473052.
original residue
F
variation residue
S
position
221
score
50.0
distance
56.87444
seq distance
1507
chain
B
In LQT3; dbSNP:rs199473077.
original residue
Q
variation residue
K
position
245
score
100.0
distance
56.950645
seq distance
1483
chain
B
In LQT3; dbSNP:rs199473077.
original residue
Q
variation residue
K
position
245
score
100.0
distance
56.950645
seq distance
1483
chain
B
In dbSNP:rs199473125.
original residue
R
variation residue
H
position
1195
score
50.0
distance
57.354343
seq distance
533
chain
B
In dbSNP:rs199473125.
original residue
R
variation residue
H
position
1195
score
50.0
distance
57.354343
seq distance
533
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473277.
original residue
F
variation residue
S
position
1594
score
100.0
distance
57.798492
seq distance
134
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473277.
original residue
F
variation residue
S
position
1594
score
100.0
distance
57.798492
seq distance
134
chain
B
In BRGDA1 and LQT3; dbSNP:rs45546039.
original residue
R
variation residue
Q
position
222
score
100.0
distance
57.85979
seq distance
1506
chain
B
In BRGDA1 and LQT3; dbSNP:rs45546039.
original residue
R
variation residue
Q
position
222
score
100.0
distance
57.85979
seq distance
1506
chain
B
In BRGDA1; dbSNP:rs199473074.
original residue
I
variation residue
V
position
230
score
100.0
distance
57.95382
seq distance
1498
chain
B
In BRGDA1; dbSNP:rs199473074.
original residue
I
variation residue
V
position
230
score
100.0
distance
57.95382
seq distance
1498
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473634.
original residue
T
variation residue
M
position
1779
score
72.72727272727273
distance
58.19767
seq distance
37
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473634.
original residue
T
variation residue
M
position
1779
score
72.72727272727273
distance
58.19767
seq distance
37
chain
B
In LQT3; dbSNP:rs199473071.
original residue
R
variation residue
Q
position
225
score
100.0
distance
58.374294
seq distance
1503
chain
B
In PFHB1A, BRGDA1 and LQT3; dbSNP:rs199473072.
original residue
R
variation residue
W
position
225
score
100.0
distance
58.374294
seq distance
1503
chain
B
In LQT3; dbSNP:rs199473071.
original residue
R
variation residue
Q
position
225
score
100.0
distance
58.374294
seq distance
1503
chain
B
In PFHB1A, BRGDA1 and LQT3; dbSNP:rs199473072.
original residue
R
variation residue
W
position
225
score
100.0
distance
58.374294
seq distance
1503
chain
B
In BRGDA1; dbSNP:rs199473124.
original residue
L
variation residue
Q
position
1194
score
50.0
distance
59.229416
seq distance
534
chain
B
In BRGDA1; dbSNP:rs199473124.
original residue
L
variation residue
Q
position
1194
score
50.0
distance
59.229416
seq distance
534
chain
B
In PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3; dbSNP:rs137854607.
original residue
D
variation residue
N
position
1595
score
100.0
distance
59.78563
seq distance
133
chain
B
In PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3; dbSNP:rs137854607.
original residue
D
variation residue
N
position
1595
score
100.0
distance
59.78563
seq distance
133
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473266.
original residue
L
variation residue
V
position
1501
score
100.0
distance
60.398907
seq distance
227
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473266.
original residue
L
variation residue
V
position
1501
score
100.0
distance
60.398907
seq distance
227
chain
B
In BRGDA1; dbSNP:rs199473267.
original residue
G
variation residue
S
position
1502
score
100.0
distance
60.548706
seq distance
226
chain
B
In BRGDA1; dbSNP:rs199473267.
original residue
G
variation residue
S
position
1502
score
100.0
distance
60.548706
seq distance
226
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473278.
original residue
F
variation residue
I
position
1596
score
100.0
distance
61.085327
seq distance
132
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473278.
original residue
F
variation residue
I
position
1596
score
100.0
distance
61.085327
seq distance
132
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473276.
original residue
I
variation residue
M
position
1593
score
100.0
distance
61.136776
seq distance
135
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473276.
original residue
I
variation residue
M
position
1593
score
100.0
distance
61.136776
seq distance
135
chain
B
In ATFB10; dbSNP:rs199473060.
original residue
M
variation residue
I
position
138
score
100.0
distance
61.340267
seq distance
1590
chain
B
In ATFB10; dbSNP:rs199473060.
original residue
M
variation residue
I
position
138
score
100.0
distance
61.340267
seq distance
1590
chain
B
In dbSNP:rs199473265.
original residue
K
variation residue
N
position
1500
score
100.0
distance
61.39739
seq distance
228
chain
B
In BRGDA1.
original residue
variation residue
position
1500
score
100.0
distance
61.39739
seq distance
228
chain
B
In dbSNP:rs199473265.
original residue
K
variation residue
N
position
1500
score
100.0
distance
61.39739
seq distance
228
chain
B
In BRGDA1.
original residue
variation residue
position
1500
score
100.0
distance
61.39739
seq distance
228
chain
B
Phosphoserine; by PKC
position
1503
score
100.0
distance
62.135742
seq distance
225
chain
B
Phosphoserine; by PKC
position
1503
score
100.0
distance
62.135742
seq distance
225
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45471994.
original residue
V
variation residue
I
position
232
score
100.0
distance
62.315136
seq distance
1496
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45471994.
original residue
V
variation residue
I
position
232
score
100.0
distance
62.315136
seq distance
1496
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
G
position
1193
score
50.0
distance
62.46058
seq distance
535
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473554.
original residue
R
variation residue
Q
position
1193
score
50.0
distance
62.46058
seq distance
535
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
W
position
1193
score
50.0
distance
62.46058
seq distance
535
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344.
original residue
R
variation residue
Q
position
1193
score
100.0
distance
62.46058
seq distance
535
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
G
position
1193
score
50.0
distance
62.46058
seq distance
535
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473554.
original residue
R
variation residue
Q
position
1193
score
50.0
distance
62.46058
seq distance
535
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
W
position
1193
score
50.0
distance
62.46058
seq distance
535
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344.
original residue
R
variation residue
Q
position
1193
score
100.0
distance
62.46058
seq distance
535
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473062.
original residue
E
variation residue
K
position
161
score
100.0
distance
62.52297
seq distance
1567
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473062.
original residue
E
variation residue
Q
position
161
score
100.0
distance
62.52297
seq distance
1567
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473062.
original residue
E
variation residue
K
position
161
score
100.0
distance
62.52297
seq distance
1567
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473062.
original residue
E
variation residue
Q
position
161
score
100.0
distance
62.52297
seq distance
1567
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473274.
original residue
F
variation residue
C
position
1571
score
100.0
distance
63.327232
seq distance
157
chain
B
In BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest; dbSNP:rs1369632373.
original residue
F
variation residue
L
position
1571
score
100.0
distance
63.327232
seq distance
157
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473274.
original residue
F
variation residue
C
position
1571
score
100.0
distance
63.327232
seq distance
157
chain
B
In BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest; dbSNP:rs1369632373.
original residue
F
variation residue
L
position
1571
score
100.0
distance
63.327232
seq distance
157
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473158.
original residue
P
variation residue
S
position
773
score
100.0
distance
63.919853
seq distance
955
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473158.
original residue
P
variation residue
S
position
773
score
100.0
distance
63.919853
seq distance
955
chain
B
In BRGDA1; asymptomatic patient; associated with R-1527; dbSNP:rs199473273.
original residue
A
variation residue
P
position
1569
score
100.0
distance
64.309685
seq distance
159
chain
B
In BRGDA1; asymptomatic patient; associated with R-1527; dbSNP:rs199473273.
original residue
A
variation residue
P
position
1569
score
100.0
distance
64.309685
seq distance
159
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473559.
original residue
A
variation residue
V
position
204
score
100.0
distance
65.328674
seq distance
1524
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473559.
original residue
A
variation residue
V
position
204
score
100.0
distance
65.328674
seq distance
1524
chain
B
In LQT3; dbSNP:rs199473070.
original residue
L
variation residue
P
position
212
score
100.0
distance
65.38659
seq distance
1516
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473070.
original residue
L
variation residue
Q
position
212
score
100.0
distance
65.38659
seq distance
1516
chain
B
In LQT3; dbSNP:rs199473070.
original residue
L
variation residue
P
position
212
score
100.0
distance
65.38659
seq distance
1516
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473070.
original residue
L
variation residue
Q
position
212
score
100.0
distance
65.38659
seq distance
1516
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473557.
original residue
L
variation residue
P
position
136
score
100.0
distance
65.9724
seq distance
1592
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473557.
original residue
L
variation residue
P
position
136
score
100.0
distance
65.9724
seq distance
1592
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473618.
original residue
V
variation residue
I
position
1532
score
100.0
distance
66.156296
seq distance
196
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473618.
original residue
V
variation residue
I
position
1532
score
100.0
distance
66.156296
seq distance
196
chain
B
In LQT3.
original residue
variation residue
begin
1505
end
1507
score
100.0
distance
66.24299
seq distance
221
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473268.
original residue
K
variation residue
N
position
1505
score
100.0
distance
66.24299
seq distance
223
chain
B
In LQT3.
original residue
variation residue
begin
1505
end
1507
score
100.0
distance
66.24299
seq distance
221
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473268.
original residue
K
variation residue
N
position
1505
score
100.0
distance
66.24299
seq distance
223
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473157.
original residue
D
variation residue
N
position
772
score
100.0
distance
66.39047
seq distance
956
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473157.
original residue
D
variation residue
N
position
772
score
100.0
distance
66.39047
seq distance
956
chain
B
In ATFB10; dbSNP:rs199473111.
original residue
E
variation residue
K
position
428
score
63.63636363636363
distance
67.61769
seq distance
1300
chain
B
In ATFB10; dbSNP:rs199473111.
original residue
E
variation residue
K
position
428
score
63.63636363636363
distance
67.61769
seq distance
1300
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473620.
original residue
E
variation residue
K
position
1574
score
100.0
distance
68.01038
seq distance
154
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473620.
original residue
E
variation residue
K
position
1574
score
100.0
distance
68.01038
seq distance
154
chain
B
In LQT3; unknown pathological significance; dbSNP:rs761375502.
original residue
variation residue
position
429
score
54.54545454545454
distance
70.793465
seq distance
1299
chain
B
In LQT3; unknown pathological significance; dbSNP:rs761375502.
original residue
variation residue
position
429
score
54.54545454545454
distance
70.793465
seq distance
1299
chain
B
In LQT3.
original residue
variation residue
begin
1507
end
1509
score
100.0
distance
71.857315
seq distance
219
chain
B
In LQT3.
original residue
variation residue
begin
1507
end
1509
score
100.0
distance
71.857315
seq distance
219
chain
B
In dbSNP:rs199473148.
original residue
S
variation residue
F
position
705
score
100.0
distance
72.01999
seq distance
1023
chain
B
In dbSNP:rs199473148.
original residue
S
variation residue
F
position
705
score
100.0
distance
72.01999
seq distance
1023
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473269.
original residue
V
variation residue
M
position
1525
score
100.0
distance
73.34066
seq distance
203
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473269.
original residue
V
variation residue
M
position
1525
score
100.0
distance
73.34066
seq distance
203
chain
B
In BRGDA1; asymptomatic patient; associated with P-1569; dbSNP:rs199473270.
original residue
K
variation residue
R
position
1527
score
100.0
distance
73.97637
seq distance
201
chain
B
In BRGDA1; asymptomatic patient; associated with P-1569; dbSNP:rs199473270.
original residue
K
variation residue
R
position
1527
score
100.0
distance
73.97637
seq distance
201
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473063.
original residue
K
variation residue
N
position
175
score
100.0
distance
74.048706
seq distance
1553
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473063.
original residue
K
variation residue
N
position
175
score
100.0
distance
74.048706
seq distance
1553
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473275.
original residue
L
variation residue
P
position
1582
score
100.0
distance
74.107735
seq distance
146
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473275.
original residue
L
variation residue
P
position
1582
score
100.0
distance
74.107735
seq distance
146
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45514691.
original residue
R
variation residue
C
position
1583
score
100.0
distance
74.31556
seq distance
145
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473621.
original residue
R
variation residue
H
position
1583
score
100.0
distance
74.31556
seq distance
145
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45514691.
original residue
R
variation residue
C
position
1583
score
100.0
distance
74.31556
seq distance
145
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473621.
original residue
R
variation residue
H
position
1583
score
100.0
distance
74.31556
seq distance
145
chain
B
In BRGDA1; loss of function; dbSNP:rs199473558.
original residue
T
variation residue
I
position
187
score
100.0
distance
75.92766
seq distance
1541
chain
B
In BRGDA1; loss of function; dbSNP:rs199473558.
original residue
T
variation residue
I
position
187
score
100.0
distance
75.92766
seq distance
1541
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473147.
original residue
P
variation residue
L
position
701
score
72.72727272727273
distance
76.928024
seq distance
1027
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473147.
original residue
P
variation residue
L
position
701
score
72.72727272727273
distance
76.928024
seq distance
1027
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473067.
original residue
A
variation residue
V
position
185
score
100.0
distance
77.23997
seq distance
1543
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473067.
original residue
A
variation residue
V
position
185
score
100.0
distance
77.23997
seq distance
1543
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473617.
original residue
I
variation residue
K
position
1521
score
100.0
distance
78.14781
seq distance
207
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473617.
original residue
I
variation residue
K
position
1521
score
100.0
distance
78.14781
seq distance
207
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473065.
original residue
A
variation residue
G
position
178
score
100.0
distance
79.036964
seq distance
1550
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473065.
original residue
A
variation residue
G
position
178
score
100.0
distance
79.036964
seq distance
1550
chain
B
In LQT3; dbSNP:rs199473059.
original residue
V
variation residue
L
position
125
score
100.0
distance
79.10968
seq distance
1603
chain
B
In LQT3; dbSNP:rs199473059.
original residue
V
variation residue
L
position
125
score
100.0
distance
79.10968
seq distance
1603
chain
B
In BRGDA1; dbSNP:rs185492581.
original residue
K
variation residue
E
position
126
score
100.0
distance
79.43465
seq distance
1602
chain
B
In BRGDA1; dbSNP:rs185492581.
original residue
K
variation residue
E
position
126
score
100.0
distance
79.43465
seq distance
1602
chain
B
In BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke; dbSNP:rs137854602.
original residue
R
variation residue
W
position
1512
score
100.0
distance
80.29836
seq distance
216
chain
B
In BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke; dbSNP:rs137854602.
original residue
R
variation residue
W
position
1512
score
100.0
distance
80.29836
seq distance
216
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473066.
original residue
C
variation residue
R
position
182
score
100.0
distance
82.08203
seq distance
1546
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473066.
original residue
C
variation residue
R
position
182
score
100.0
distance
82.08203
seq distance
1546
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473058.
original residue
R
variation residue
Q
position
121
score
72.72727272727273
distance
83.75408
seq distance
1607
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473556.
original residue
R
variation residue
W
position
121
score
72.72727272727273
distance
83.75408
seq distance
1607
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473058.
original residue
R
variation residue
Q
position
121
score
72.72727272727273
distance
83.75408
seq distance
1607
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473556.
original residue
R
variation residue
W
position
121
score
72.72727272727273
distance
83.75408
seq distance
1607
chain
B

Details

Redox score
76.43
PDB code
6lqa
Structure name
voltage-gated sodium channel nav1.5 with quinidine
Structure deposition date
2020-01-13
Thiol separation (Å)
2.03
Half-sphere exposure sum
55
Minimum pKa
nan
% buried
nan
Peptide accession
Q14524
Residue number A
1728
Residue number B
1742
Peptide name
Sodium channel protein type 5 subunit alpha
A redox-regulated disulphide may form within Sodium channel protein type 5 subunit alpha at these cysteines.

Relevent regions

In BRGDA1; unknown pathological significance; dbSNP:rs199473237.
original residue
C
variation residue
Y
position
1363
score
100.0
distance
2.8020408
seq distance
0
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473237.
original residue
C
variation residue
Y
position
1363
score
100.0
distance
2.8020408
seq distance
0
chain
A
In BRGDA1; dbSNP:rs199473608.
original residue
S
variation residue
I
position
1382
score
100.0
distance
7.7220063
seq distance
2
chain
A
In BRGDA1; dbSNP:rs199473608.
original residue
S
variation residue
I
position
1382
score
100.0
distance
7.7220063
seq distance
2
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473248.
original residue
P
variation residue
L
position
1438
score
100.0
distance
9.183007
seq distance
54
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473248.
original residue
P
variation residue
L
position
1438
score
100.0
distance
9.183007
seq distance
54
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473236.
original residue
F
variation residue
C
position
1360
score
100.0
distance
10.587611
seq distance
3
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473236.
original residue
F
variation residue
C
position
1360
score
100.0
distance
10.587611
seq distance
3
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473235.
original residue
K
variation residue
N
position
1359
score
100.0
distance
11.586198
seq distance
4
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473235.
original residue
K
variation residue
N
position
1359
score
100.0
distance
11.586198
seq distance
4
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473234.
original residue
G
variation residue
W
position
1358
score
100.0
distance
12.828072
seq distance
5
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473234.
original residue
G
variation residue
W
position
1358
score
100.0
distance
12.828072
seq distance
5
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473045.
original residue
R
variation residue
H
position
1432
score
54.54545454545454
distance
13.209933
seq distance
48
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473245.
original residue
R
variation residue
G
position
1432
score
100.0
distance
13.209933
seq distance
48
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473246.
original residue
R
variation residue
S
position
1432
score
100.0
distance
13.209933
seq distance
48
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473045.
original residue
R
variation residue
H
position
1432
score
54.54545454545454
distance
13.209933
seq distance
48
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473245.
original residue
R
variation residue
G
position
1432
score
100.0
distance
13.209933
seq distance
48
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473246.
original residue
R
variation residue
S
position
1432
score
100.0
distance
13.209933
seq distance
48
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473247.
original residue
G
variation residue
V
position
1433
score
100.0
distance
13.223215
seq distance
49
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473247.
original residue
G
variation residue
V
position
1433
score
100.0
distance
13.223215
seq distance
49
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473244.
original residue
A
variation residue
S
position
1427
score
100.0
distance
13.824211
seq distance
43
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473244.
original residue
A
variation residue
S
position
1427
score
100.0
distance
13.824211
seq distance
43
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473612.
original residue
A
variation residue
V
position
1428
score
100.0
distance
15.942843
seq distance
44
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473612.
original residue
A
variation residue
V
position
1428
score
100.0
distance
15.942843
seq distance
44
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473249.
original residue
E
variation residue
Q
position
1441
score
100.0
distance
17.320116
seq distance
57
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473249.
original residue
E
variation residue
Q
position
1441
score
100.0
distance
17.320116
seq distance
57
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473300.
original residue
T
variation residue
N
position
1723
score
100.0
distance
18.413004
seq distance
339
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473300.
original residue
T
variation residue
N
position
1723
score
100.0
distance
18.413004
seq distance
339
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473302.
original residue
C
variation residue
R
position
1728
score
100.0
distance
18.424776
seq distance
344
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs193922726.
original residue
C
variation residue
W
position
1728
score
100.0
distance
18.424776
seq distance
344
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473302.
original residue
C
variation residue
R
position
1728
score
100.0
distance
18.424776
seq distance
344
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs193922726.
original residue
C
variation residue
W
position
1728
score
100.0
distance
18.424776
seq distance
344
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473299.
original residue
N
variation residue
D
position
1722
score
100.0
distance
18.675325
seq distance
338
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473299.
original residue
N
variation residue
D
position
1722
score
100.0
distance
18.675325
seq distance
338
chain
A
In LQT3; dbSNP:rs199473043.
original residue
G
variation residue
V
position
319
score
50.0
distance
20.920517
seq distance
1044
chain
A
In BRGDA1; dbSNP:rs199473090.
original residue
G
variation residue
S
position
319
score
100.0
distance
20.920517
seq distance
1044
chain
A
In LQT3; dbSNP:rs199473043.
original residue
G
variation residue
V
position
319
score
50.0
distance
20.920517
seq distance
1044
chain
A
In BRGDA1; dbSNP:rs199473090.
original residue
G
variation residue
S
position
319
score
100.0
distance
20.920517
seq distance
1044
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473233.
original residue
V
variation residue
M
position
1353
score
100.0
distance
21.068823
seq distance
10
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473233.
original residue
V
variation residue
M
position
1353
score
100.0
distance
21.068823
seq distance
10
chain
A
In BRGDA1; dbSNP:rs199473168.
original residue
R
variation residue
C
position
878
score
100.0
distance
21.75021
seq distance
485
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473587.
original residue
R
variation residue
H
position
878
score
100.0
distance
21.75021
seq distance
485
chain
A
In BRGDA1; dbSNP:rs199473168.
original residue
R
variation residue
C
position
878
score
100.0
distance
21.75021
seq distance
485
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473587.
original residue
R
variation residue
H
position
878
score
100.0
distance
21.75021
seq distance
485
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473091.
original residue
T
variation residue
N
position
320
score
100.0
distance
22.469715
seq distance
1043
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473091.
original residue
T
variation residue
N
position
320
score
100.0
distance
22.469715
seq distance
1043
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473611.
original residue
G
variation residue
R
position
1420
score
100.0
distance
22.525568
seq distance
36
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473611.
original residue
G
variation residue
R
position
1420
score
100.0
distance
22.525568
seq distance
36
chain
A
In SSS1 and BRGDA1; dbSNP:rs137854612.
original residue
G
variation residue
R
position
1408
score
100.0
distance
22.621206
seq distance
24
chain
A
In SSS1 and BRGDA1; dbSNP:rs137854612.
original residue
G
variation residue
R
position
1408
score
100.0
distance
22.621206
seq distance
24
chain
A
Phosphoserine
position
805
score
59.09090909090909
distance
24.03509
seq distance
558
chain
A
Phosphoserine
position
805
score
59.09090909090909
distance
24.03509
seq distance
558
chain
A
In BRGDA1; strong decrease of current density; does not affect ion selectivity properties; dbSNP:rs199473628.
original residue
D
variation residue
G
position
1714
score
100.0
distance
24.4278
seq distance
330
chain
A
In BRGDA1; strong decrease of current density; does not affect ion selectivity properties; dbSNP:rs199473628.
original residue
D
variation residue
G
position
1714
score
100.0
distance
24.4278
seq distance
330
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473609.
original residue
G
variation residue
E
position
1406
score
100.0
distance
24.55081
seq distance
22
chain
A
In BRGDA1; dbSNP:rs199473240.
original residue
G
variation residue
R
position
1406
score
100.0
distance
24.55081
seq distance
22
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473609.
original residue
G
variation residue
E
position
1406
score
100.0
distance
24.55081
seq distance
22
chain
A
In BRGDA1; dbSNP:rs199473240.
original residue
G
variation residue
R
position
1406
score
100.0
distance
24.55081
seq distance
22
chain
A
In BRGDA1; dbSNP:rs199473239.
original residue
V
variation residue
L
position
1405
score
100.0
distance
24.602638
seq distance
21
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473239.
original residue
V
variation residue
M
position
1405
score
100.0
distance
24.602638
seq distance
21
chain
A
In BRGDA1; dbSNP:rs199473239.
original residue
V
variation residue
L
position
1405
score
100.0
distance
24.602638
seq distance
21
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473239.
original residue
V
variation residue
M
position
1405
score
100.0
distance
24.602638
seq distance
21
chain
A
Phosphoserine
position
1744
score
50.0
distance
24.6363
seq distance
360
chain
A
Phosphoserine
position
1744
score
50.0
distance
24.6363
seq distance
360
chain
A
In BRGDA1; dbSNP:rs199473629.
original residue
G
variation residue
E
position
1743
score
100.0
distance
25.209309
seq distance
359
chain
A
In BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells; dbSNP:rs199473305.
original residue
G
variation residue
R
position
1743
score
100.0
distance
25.209309
seq distance
359
chain
A
In BRGDA1; dbSNP:rs199473629.
original residue
G
variation residue
E
position
1743
score
100.0
distance
25.209309
seq distance
359
chain
A
In BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells; dbSNP:rs199473305.
original residue
G
variation residue
R
position
1743
score
100.0
distance
25.209309
seq distance
359
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473232.
original residue
M
variation residue
R
position
1351
score
100.0
distance
25.391283
seq distance
12
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473232.
original residue
M
variation residue
R
position
1351
score
100.0
distance
25.391283
seq distance
12
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473613.
original residue
Y
variation residue
C
position
1449
score
100.0
distance
25.55361
seq distance
65
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473613.
original residue
Y
variation residue
C
position
1449
score
100.0
distance
25.55361
seq distance
65
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473241.
original residue
L
variation residue
F
position
1412
score
100.0
distance
25.57258
seq distance
28
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473241.
original residue
L
variation residue
F
position
1412
score
100.0
distance
25.57258
seq distance
28
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473610.
original residue
Y
variation residue
C
position
1409
score
100.0
distance
25.831182
seq distance
25
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473610.
original residue
Y
variation residue
C
position
1409
score
100.0
distance
25.831182
seq distance
25
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473582.
original residue
E
variation residue
K
position
746
score
100.0
distance
26.068203
seq distance
617
chain
A
In dbSNP:rs199473193.
original residue
E
variation residue
K
position
746
score
50.0
distance
26.068203
seq distance
617
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473582.
original residue
E
variation residue
K
position
746
score
100.0
distance
26.068203
seq distance
617
chain
A
In dbSNP:rs199473193.
original residue
E
variation residue
K
position
746
score
50.0
distance
26.068203
seq distance
617
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473242.
original residue
K
variation residue
E
position
1419
score
100.0
distance
26.310623
seq distance
35
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473242.
original residue
K
variation residue
E
position
1419
score
100.0
distance
26.310623
seq distance
35
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473250.
original residue
I
variation residue
L
position
1448
score
100.0
distance
26.55817
seq distance
64
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473251.
original residue
I
variation residue
T
position
1448
score
100.0
distance
26.55817
seq distance
64
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473250.
original residue
I
variation residue
L
position
1448
score
100.0
distance
26.55817
seq distance
64
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473251.
original residue
I
variation residue
T
position
1448
score
100.0
distance
26.55817
seq distance
64
chain
A
In BRGDA1; dbSNP:rs199473304.
original residue
G
variation residue
R
position
1740
score
100.0
distance
26.704617
seq distance
356
chain
A
In BRGDA1; dbSNP:rs199473304.
original residue
G
variation residue
R
position
1740
score
100.0
distance
26.704617
seq distance
356
chain
A
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; changed voltage dependence for activation and inactivation.
original residue
G
variation residue
D
position
1748
score
100.0
distance
27.559786
seq distance
364
chain
A
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; changed voltage dependence for activation and inactivation.
original residue
G
variation residue
D
position
1748
score
100.0
distance
27.559786
seq distance
364
chain
A
In LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation; dbSNP:rs794728898.
original residue
H
variation residue
R
position
880
score
50.0
distance
27.9617
seq distance
483
chain
A
In LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation; dbSNP:rs794728898.
original residue
H
variation residue
R
position
880
score
50.0
distance
27.9617
seq distance
483
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473169.
original residue
H
variation residue
P
position
886
score
100.0
distance
27.962654
seq distance
477
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473169.
original residue
H
variation residue
P
position
886
score
100.0
distance
27.962654
seq distance
477
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473303.
original residue
R
variation residue
W
position
1739
score
100.0
distance
28.234243
seq distance
355
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473303.
original residue
R
variation residue
W
position
1739
score
100.0
distance
28.234243
seq distance
355
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473298.
original residue
G
variation residue
S
position
1712
score
100.0
distance
28.238785
seq distance
328
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473298.
original residue
G
variation residue
S
position
1712
score
100.0
distance
28.238785
seq distance
328
chain
A
In BRGDA1; dbSNP:rs137854611.
original residue
A
variation residue
E
position
735
score
100.0
distance
28.3039
seq distance
628
chain
A
In BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs137854611.
original residue
A
variation residue
V
position
735
score
100.0
distance
28.3039
seq distance
628
chain
A
In BRGDA1; dbSNP:rs137854611.
original residue
A
variation residue
E
position
735
score
100.0
distance
28.3039
seq distance
628
chain
A
In BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs137854611.
original residue
A
variation residue
V
position
735
score
100.0
distance
28.3039
seq distance
628
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473252.
original residue
V
variation residue
D
position
1451
score
100.0
distance
28.687431
seq distance
67
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473252.
original residue
V
variation residue
D
position
1451
score
100.0
distance
28.687431
seq distance
67
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473160.
original residue
R
variation residue
P
position
808
score
100.0
distance
28.821905
seq distance
555
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473160.
original residue
R
variation residue
P
position
808
score
100.0
distance
28.821905
seq distance
555
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473174.
original residue
E
variation residue
K
position
901
score
100.0
distance
29.65687
seq distance
462
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473174.
original residue
E
variation residue
K
position
901
score
100.0
distance
29.65687
seq distance
462
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473230.
original residue
L
variation residue
I
position
1346
score
100.0
distance
30.296772
seq distance
17
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473231.
original residue
L
variation residue
P
position
1346
score
100.0
distance
30.296772
seq distance
17
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473230.
original residue
L
variation residue
I
position
1346
score
100.0
distance
30.296772
seq distance
17
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473231.
original residue
L
variation residue
P
position
1346
score
100.0
distance
30.296772
seq distance
17
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473171.
original residue
R
variation residue
C
position
893
score
100.0
distance
30.43556
seq distance
470
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473172.
original residue
R
variation residue
H
position
893
score
100.0
distance
30.43556
seq distance
470
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473171.
original residue
R
variation residue
C
position
893
score
100.0
distance
30.43556
seq distance
470
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473172.
original residue
R
variation residue
H
position
893
score
100.0
distance
30.43556
seq distance
470
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473167.
original residue
E
variation residue
Q
position
867
score
100.0
distance
30.465899
seq distance
496
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473167.
original residue
E
variation residue
Q
position
867
score
100.0
distance
30.465899
seq distance
496
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473564.
original residue
L
variation residue
P
position
315
score
100.0
distance
30.824572
seq distance
1048
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473564.
original residue
L
variation residue
P
position
315
score
100.0
distance
30.824572
seq distance
1048
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473152.
original residue
Q
variation residue
R
position
750
score
100.0
distance
31.150755
seq distance
613
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473152.
original residue
Q
variation residue
R
position
750
score
100.0
distance
31.150755
seq distance
613
chain
A
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; no effect on voltage dependence for activation and inactivation; dbSNP:rs1060499900.
original residue
D
variation residue
N
position
1690
score
100.0
distance
31.318874
seq distance
306
chain
A
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; no effect on voltage dependence for activation and inactivation; dbSNP:rs1060499900.
original residue
D
variation residue
N
position
1690
score
100.0
distance
31.318874
seq distance
306
chain
A
In dbSNP:rs199473100.
original residue
R
variation residue
C
position
376
score
100.0
distance
31.502823
seq distance
987
chain
A
In BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation; dbSNP:rs199473101.
original residue
R
variation residue
H
position
376
score
100.0
distance
31.502823
seq distance
987
chain
A
In dbSNP:rs199473100.
original residue
R
variation residue
C
position
376
score
100.0
distance
31.502823
seq distance
987
chain
A
In BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation; dbSNP:rs199473101.
original residue
R
variation residue
H
position
376
score
100.0
distance
31.502823
seq distance
987
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473294.
original residue
A
variation residue
T
position
1680
score
100.0
distance
31.596859
seq distance
296
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473294.
original residue
A
variation residue
T
position
1680
score
100.0
distance
31.596859
seq distance
296
chain
A
In BRGDA1; dbSNP:rs199473170.
original residue
F
variation residue
I
position
892
score
100.0
distance
32.273964
seq distance
471
chain
A
In BRGDA1; dbSNP:rs199473170.
original residue
F
variation residue
I
position
892
score
100.0
distance
32.273964
seq distance
471
chain
A
In BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no domiFalset negative effect.
original residue
L
variation residue
Q
position
812
score
100.0
distance
32.378082
seq distance
551
chain
A
In BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no domiFalset negative effect.
original residue
L
variation residue
Q
position
812
score
100.0
distance
32.378082
seq distance
551
chain
A
In VF1; dbSNP:rs137854604.
original residue
S
variation residue
L
position
1710
score
100.0
distance
32.89757
seq distance
326
chain
A
In VF1; dbSNP:rs137854604.
original residue
S
variation residue
L
position
1710
score
100.0
distance
32.89757
seq distance
326
chain
A
In BRGDA1; dbSNP:rs199473173.
original residue
C
variation residue
S
position
896
score
100.0
distance
32.94225
seq distance
467
chain
A
In BRGDA1; dbSNP:rs199473173.
original residue
C
variation residue
S
position
896
score
100.0
distance
32.94225
seq distance
467
chain
A
In LQT3; dbSNP:rs199473253.
original residue
S
variation residue
Y
position
1458
score
100.0
distance
33.28274
seq distance
74
chain
A
In LQT3; dbSNP:rs199473253.
original residue
S
variation residue
Y
position
1458
score
100.0
distance
33.28274
seq distance
74
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473228.
original residue
F
variation residue
L
position
1344
score
100.0
distance
34.05931
seq distance
19
chain
A
In BRGDA1; dbSNP:rs199473229.
original residue
F
variation residue
S
position
1344
score
100.0
distance
34.05931
seq distance
19
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473228.
original residue
F
variation residue
L
position
1344
score
100.0
distance
34.05931
seq distance
19
chain
A
In BRGDA1; dbSNP:rs199473229.
original residue
F
variation residue
S
position
1344
score
100.0
distance
34.05931
seq distance
19
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473150.
original residue
T
variation residue
I
position
731
score
100.0
distance
34.146248
seq distance
632
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473150.
original residue
T
variation residue
I
position
731
score
100.0
distance
34.146248
seq distance
632
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473566.
original residue
W
variation residue
G
position
374
score
100.0
distance
34.68353
seq distance
989
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473566.
original residue
W
variation residue
G
position
374
score
100.0
distance
34.68353
seq distance
989
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473092.
original residue
L
variation residue
R
position
325
score
100.0
distance
34.957882
seq distance
1038
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473092.
original residue
L
variation residue
R
position
325
score
100.0
distance
34.957882
seq distance
1038
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473153.
original residue
G
variation residue
R
position
752
score
100.0
distance
35.17437
seq distance
611
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473153.
original residue
G
variation residue
R
position
752
score
100.0
distance
35.17437
seq distance
611
chain
A
In BRGDA1; severe reduction of sodium currents; dbSNP:rs199473093.
original residue
P
variation residue
L
position
336
score
100.0
distance
35.998653
seq distance
1027
chain
A
In BRGDA1; severe reduction of sodium currents; dbSNP:rs199473093.
original residue
P
variation residue
L
position
336
score
100.0
distance
35.998653
seq distance
1027
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
M
position
1709
score
100.0
distance
36.39571
seq distance
325
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
R
position
1709
score
100.0
distance
36.39571
seq distance
325
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
M
position
1709
score
100.0
distance
36.39571
seq distance
325
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
R
position
1709
score
100.0
distance
36.39571
seq distance
325
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473095.
original residue
G
variation residue
D
position
351
score
100.0
distance
36.961033
seq distance
1012
chain
A
In BRGDA1; 7-fold current reduction; dbSNP:rs199473095.
original residue
G
variation residue
V
position
351
score
100.0
distance
36.961033
seq distance
1012
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473095.
original residue
G
variation residue
D
position
351
score
100.0
distance
36.961033
seq distance
1012
chain
A
In BRGDA1; 7-fold current reduction; dbSNP:rs199473095.
original residue
G
variation residue
V
position
351
score
100.0
distance
36.961033
seq distance
1012
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs137854606.
original residue
G
variation residue
C
position
797
score
50.0
distance
37.395416
seq distance
566
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs137854606.
original residue
G
variation residue
C
position
797
score
50.0
distance
37.395416
seq distance
566
chain
A
In BRGDA1; dbSNP:rs199473175.
original residue
S
variation residue
L
position
910
score
100.0
distance
37.59303
seq distance
453
chain
A
In BRGDA1; dbSNP:rs199473175.
original residue
S
variation residue
L
position
910
score
100.0
distance
37.59303
seq distance
453
chain
A
In BRGDA1; dbSNP:rs199473096.
original residue
T
variation residue
I
position
353
score
100.0
distance
37.624672
seq distance
1010
chain
A
In BRGDA1; dbSNP:rs199473096.
original residue
T
variation residue
I
position
353
score
100.0
distance
37.624672
seq distance
1010
chain
A
In BRGDA1; dbSNP:rs199473584.
original residue
R
variation residue
Q
position
814
score
100.0
distance
37.730946
seq distance
549
chain
A
In BRGDA1; dbSNP:rs199473584.
original residue
R
variation residue
Q
position
814
score
100.0
distance
37.730946
seq distance
549
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473082.
original residue
R
variation residue
C
position
282
score
100.0
distance
38.08507
seq distance
1081
chain
A
In BRGDA1; dbSNP:rs199473083.
original residue
R
variation residue
H
position
282
score
100.0
distance
38.08507
seq distance
1081
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473082.
original residue
R
variation residue
C
position
282
score
100.0
distance
38.08507
seq distance
1081
chain
A
In BRGDA1; dbSNP:rs199473083.
original residue
R
variation residue
H
position
282
score
100.0
distance
38.08507
seq distance
1081
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473626.
original residue
S
variation residue
Y
position
1672
score
100.0
distance
38.147358
seq distance
288
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473626.
original residue
S
variation residue
Y
position
1672
score
100.0
distance
38.147358
seq distance
288
chain
A
In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation; dbSNP:rs199473627.
original residue
F
variation residue
S
position
1705
score
100.0
distance
38.160404
seq distance
321
chain
A
In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation; dbSNP:rs199473627.
original residue
F
variation residue
S
position
1705
score
100.0
distance
38.160404
seq distance
321
chain
A
In SSS1; dbSNP:rs28937319.
original residue
P
variation residue
L
position
1298
score
100.0
distance
38.564926
seq distance
65
chain
A
In SSS1; dbSNP:rs28937319.
original residue
P
variation residue
L
position
1298
score
100.0
distance
38.564926
seq distance
65
chain
A
In BRGDA1 and LQT3; express no current; dbSNP:rs199473097.
original residue
R
variation residue
C
position
367
score
100.0
distance
38.641777
seq distance
996
chain
A
In BRGDA1; express no current; dbSNP:rs28937318.
original residue
R
variation residue
H
position
367
score
100.0
distance
38.641777
seq distance
996
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs28937318.
original residue
R
variation residue
L
position
367
score
100.0
distance
38.641777
seq distance
996
chain
A
In BRGDA1 and LQT3; express no current; dbSNP:rs199473097.
original residue
R
variation residue
C
position
367
score
100.0
distance
38.641777
seq distance
996
chain
A
In BRGDA1; express no current; dbSNP:rs28937318.
original residue
R
variation residue
H
position
367
score
100.0
distance
38.641777
seq distance
996
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs28937318.
original residue
R
variation residue
L
position
367
score
100.0
distance
38.641777
seq distance
996
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473227.
original residue
L
variation residue
V
position
1338
score
100.0
distance
38.90246
seq distance
25
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473227.
original residue
L
variation residue
V
position
1338
score
100.0
distance
38.90246
seq distance
25
chain
A
In BRGDA1; dbSNP:rs199473586.
original residue
F
variation residue
L
position
851
score
100.0
distance
38.983665
seq distance
512
chain
A
In BRGDA1; dbSNP:rs199473586.
original residue
F
variation residue
L
position
851
score
100.0
distance
38.983665
seq distance
512
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473588.
original residue
C
variation residue
R
position
915
score
100.0
distance
39.162697
seq distance
448
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473588.
original residue
C
variation residue
R
position
915
score
100.0
distance
39.162697
seq distance
448
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473099.
original residue
T
variation residue
M
position
370
score
100.0
distance
39.433178
seq distance
993
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473099.
original residue
T
variation residue
M
position
370
score
100.0
distance
39.433178
seq distance
993
chain
A
In LQT3; dbSNP:rs199473603.
original residue
T
variation residue
M
position
1304
score
100.0
distance
39.43454
seq distance
59
chain
A
In LQT3; dbSNP:rs199473603.
original residue
T
variation residue
M
position
1304
score
100.0
distance
39.43454
seq distance
59
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473162.
original residue
F
variation residue
Y
position
816
score
100.0
distance
39.57272
seq distance
547
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473162.
original residue
F
variation residue
Y
position
816
score
100.0
distance
39.57272
seq distance
547
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473562.
original residue
H
variation residue
D
position
278
score
100.0
distance
39.718613
seq distance
1085
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473562.
original residue
H
variation residue
D
position
278
score
100.0
distance
39.718613
seq distance
1085
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473081.
original residue
L
variation residue
Q
position
276
score
100.0
distance
39.731712
seq distance
1087
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473081.
original residue
L
variation residue
Q
position
276
score
100.0
distance
39.731712
seq distance
1087
chain
A
In PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance; dbSNP:rs137854608.
original residue
G
variation residue
S
position
298
score
100.0
distance
40.584805
seq distance
1065
chain
A
In PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance; dbSNP:rs137854608.
original residue
G
variation residue
S
position
298
score
100.0
distance
40.584805
seq distance
1065
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473295.
original residue
A
variation residue
T
position
1698
score
100.0
distance
40.622646
seq distance
314
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473295.
original residue
A
variation residue
T
position
1698
score
100.0
distance
40.622646
seq distance
314
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473094.
original residue
R
variation residue
W
position
340
score
100.0
distance
40.73727
seq distance
1023
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473094.
original residue
R
variation residue
W
position
340
score
100.0
distance
40.73727
seq distance
1023
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473061.
original residue
V
variation residue
M
position
146
score
100.0
distance
40.865017
seq distance
1217
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473061.
original residue
V
variation residue
M
position
146
score
100.0
distance
40.865017
seq distance
1217
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473589.
original residue
N
variation residue
S
position
927
score
100.0
distance
41.12884
seq distance
436
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473589.
original residue
N
variation residue
S
position
927
score
100.0
distance
41.12884
seq distance
436
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473205.
original residue
Y
variation residue
H
position
1228
score
100.0
distance
41.31071
seq distance
135
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473205.
original residue
Y
variation residue
H
position
1228
score
100.0
distance
41.31071
seq distance
135
chain
A
In dbSNP:rs199473087.
original residue
L
variation residue
M
position
299
score
100.0
distance
41.422783
seq distance
1064
chain
A
In dbSNP:rs199473087.
original residue
L
variation residue
M
position
299
score
100.0
distance
41.422783
seq distance
1064
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473614.
original residue
N
variation residue
Y
position
1463
score
100.0
distance
41.7985
seq distance
79
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473614.
original residue
N
variation residue
Y
position
1463
score
100.0
distance
41.7985
seq distance
79
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473307.
original residue
L
variation residue
F
position
1761
score
100.0
distance
41.90181
seq distance
377
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473308.
original residue
L
variation residue
H
position
1761
score
100.0
distance
41.90181
seq distance
377
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473307.
original residue
L
variation residue
F
position
1761
score
100.0
distance
41.90181
seq distance
377
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473308.
original residue
L
variation residue
H
position
1761
score
100.0
distance
41.90181
seq distance
377
chain
A
In BRGDA1; dbSNP:rs199473098.
original residue
M
variation residue
K
position
369
score
100.0
distance
42.052418
seq distance
994
chain
A
In BRGDA1; dbSNP:rs199473098.
original residue
M
variation residue
K
position
369
score
100.0
distance
42.052418
seq distance
994
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473159.
original residue
V
variation residue
I
position
789
score
100.0
distance
42.073105
seq distance
574
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473159.
original residue
V
variation residue
I
position
789
score
100.0
distance
42.073105
seq distance
574
chain
A
In BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation.
original residue
K
variation residue
E
position
817
score
100.0
distance
42.358173
seq distance
546
chain
A
In BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation.
original residue
K
variation residue
E
position
817
score
100.0
distance
42.358173
seq distance
546
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473204.
original residue
E
variation residue
K
position
1225
score
100.0
distance
42.47604
seq distance
138
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473204.
original residue
E
variation residue
K
position
1225
score
100.0
distance
42.47604
seq distance
138
chain
A
In BRGDA1.
original residue
variation residue
position
393
score
100.0
distance
42.58582
seq distance
970
chain
A
In BRGDA1.
original residue
variation residue
position
393
score
100.0
distance
42.58582
seq distance
970
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473293.
original residue
V
variation residue
I
position
1667
score
100.0
distance
42.617996
seq distance
283
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473293.
original residue
V
variation residue
I
position
1667
score
100.0
distance
42.617996
seq distance
283
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473105.
original residue
I
variation residue
T
position
397
score
100.0
distance
42.63707
seq distance
966
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473105.
original residue
I
variation residue
T
position
397
score
100.0
distance
42.63707
seq distance
966
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473154.
original residue
G
variation residue
E
position
758
score
100.0
distance
42.691776
seq distance
605
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473154.
original residue
G
variation residue
E
position
758
score
100.0
distance
42.691776
seq distance
605
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473166.
original residue
I
variation residue
F
position
848
score
100.0
distance
42.915665
seq distance
515
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473166.
original residue
I
variation residue
F
position
848
score
100.0
distance
42.915665
seq distance
515
chain
A
In LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation; dbSNP:rs199473218.
original residue
E
variation residue
K
position
1295
score
100.0
distance
42.93421
seq distance
68
chain
A
In LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation; dbSNP:rs199473218.
original residue
E
variation residue
K
position
1295
score
100.0
distance
42.93421
seq distance
68
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473567.
original residue
G
variation residue
E
position
386
score
100.0
distance
42.961864
seq distance
977
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473102.
original residue
G
variation residue
R
position
386
score
100.0
distance
42.961864
seq distance
977
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473567.
original residue
G
variation residue
E
position
386
score
100.0
distance
42.961864
seq distance
977
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473102.
original residue
G
variation residue
R
position
386
score
100.0
distance
42.961864
seq distance
977
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473080.
original residue
N
variation residue
K
position
275
score
100.0
distance
42.98739
seq distance
1088
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473080.
original residue
N
variation residue
K
position
275
score
100.0
distance
42.98739
seq distance
1088
chain
A
In LQT3; dbSNP:rs199473631.
original residue
V
variation residue
M
position
1763
score
100.0
distance
43.093513
seq distance
379
chain
A
In LQT3; dbSNP:rs199473631.
original residue
V
variation residue
M
position
1763
score
100.0
distance
43.093513
seq distance
379
chain
A
In dbSNP:rs199473177.
original residue
V
variation residue
I
position
924
score
100.0
distance
43.371304
seq distance
439
chain
A
In dbSNP:rs199473177.
original residue
V
variation residue
I
position
924
score
100.0
distance
43.371304
seq distance
439
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473176.
original residue
L
variation residue
R
position
917
score
100.0
distance
43.476826
seq distance
446
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473176.
original residue
L
variation residue
R
position
917
score
100.0
distance
43.476826
seq distance
446
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473226.
original residue
I
variation residue
V
position
1334
score
100.0
distance
43.935646
seq distance
29
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473226.
original residue
I
variation residue
V
position
1334
score
100.0
distance
43.935646
seq distance
29
chain
A
In LQT3; dbSNP:rs199473598.
original residue
E
variation residue
K
position
1231
score
100.0
distance
44.155766
seq distance
132
chain
A
In LQT3; dbSNP:rs199473598.
original residue
E
variation residue
K
position
1231
score
100.0
distance
44.155766
seq distance
132
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473309.
original residue
V
variation residue
F
position
1764
score
100.0
distance
44.17849
seq distance
380
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473309.
original residue
V
variation residue
F
position
1764
score
100.0
distance
44.17849
seq distance
380
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473088.
original residue
V
variation residue
I
position
300
score
100.0
distance
44.321262
seq distance
1063
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473088.
original residue
V
variation residue
I
position
300
score
100.0
distance
44.321262
seq distance
1063
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473178.
original residue
L
variation residue
P
position
928
score
100.0
distance
44.882774
seq distance
435
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473178.
original residue
L
variation residue
P
position
928
score
100.0
distance
44.882774
seq distance
435
chain
A
In SSS1 and BRGDA1; dbSNP:rs45620037.
original residue
T
variation residue
I
position
220
score
100.0
distance
45.009693
seq distance
1143
chain
A
In SSS1 and BRGDA1; dbSNP:rs45620037.
original residue
T
variation residue
I
position
220
score
100.0
distance
45.009693
seq distance
1143
chain
A
Associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031.
original residue
L
variation residue
F
position
1308
score
100.0
distance
45.13056
seq distance
55
chain
A
Associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031.
original residue
L
variation residue
F
position
1308
score
100.0
distance
45.13056
seq distance
55
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473103.
original residue
V
variation residue
A
position
396
score
100.0
distance
45.259167
seq distance
967
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473104.
original residue
V
variation residue
L
position
396
score
100.0
distance
45.259167
seq distance
967
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473103.
original residue
V
variation residue
A
position
396
score
100.0
distance
45.259167
seq distance
967
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473104.
original residue
V
variation residue
L
position
396
score
100.0
distance
45.259167
seq distance
967
chain
A
In BRGDA1; loss of function; dbSNP:rs199473565.
original residue
D
variation residue
N
position
356
score
100.0
distance
45.748653
seq distance
1007
chain
A
In BRGDA1; loss of function; dbSNP:rs199473565.
original residue
D
variation residue
N
position
356
score
100.0
distance
45.748653
seq distance
1007
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473560.
original residue
V
variation residue
L
position
223
score
100.0
distance
45.801815
seq distance
1140
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473560.
original residue
V
variation residue
L
position
223
score
100.0
distance
45.801815
seq distance
1140
chain
A
Rare variant found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41276525.
original residue
S
variation residue
L
position
216
score
100.0
distance
46.28554
seq distance
1147
chain
A
Rare variant found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41276525.
original residue
S
variation residue
L
position
216
score
100.0
distance
46.28554
seq distance
1147
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473206.
original residue
R
variation residue
Q
position
1232
score
100.0
distance
47.11904
seq distance
131
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473207.
original residue
R
variation residue
W
position
1232
score
100.0
distance
47.11904
seq distance
131
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473206.
original residue
R
variation residue
Q
position
1232
score
100.0
distance
47.11904
seq distance
131
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473207.
original residue
R
variation residue
W
position
1232
score
100.0
distance
47.11904
seq distance
131
chain
A
In LQT3 and SIDS; dbSNP:rs199473604.
original residue
S
variation residue
Y
position
1333
score
100.0
distance
47.153694
seq distance
30
chain
A
In LQT3 and SIDS; dbSNP:rs199473604.
original residue
S
variation residue
Y
position
1333
score
100.0
distance
47.153694
seq distance
30
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473254.
original residue
V
variation residue
F
position
1468
score
100.0
distance
47.16535
seq distance
84
chain
A
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41315493.
original residue
V
variation residue
L
position
1468
score
54.54545454545454
distance
47.16535
seq distance
84
chain
A
In ATFB10; dbSNP:rs41315493.
original residue
V
variation residue
M
position
1468
score
54.54545454545454
distance
47.16535
seq distance
84
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473254.
original residue
V
variation residue
F
position
1468
score
100.0
distance
47.16535
seq distance
84
chain
A
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41315493.
original residue
V
variation residue
L
position
1468
score
54.54545454545454
distance
47.16535
seq distance
84
chain
A
In ATFB10; dbSNP:rs41315493.
original residue
V
variation residue
M
position
1468
score
54.54545454545454
distance
47.16535
seq distance
84
chain
A
In BRGDA1; dbSNP:rs199473561.
original residue
A
variation residue
V
position
226
score
100.0
distance
47.220036
seq distance
1137
chain
A
In BRGDA1; dbSNP:rs199473561.
original residue
A
variation residue
V
position
226
score
100.0
distance
47.220036
seq distance
1137
chain
A
In LQT3; dbSNP:rs199473108.
original residue
N
variation residue
K
position
406
score
100.0
distance
47.30433
seq distance
957
chain
A
In BRGDA1; dbSNP:rs199473568.
original residue
N
variation residue
S
position
406
score
100.0
distance
47.30433
seq distance
957
chain
A
In LQT3; dbSNP:rs199473108.
original residue
N
variation residue
K
position
406
score
100.0
distance
47.30433
seq distance
957
chain
A
In BRGDA1; dbSNP:rs199473568.
original residue
N
variation residue
S
position
406
score
100.0
distance
47.30433
seq distance
957
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473632.
original residue
Y
variation residue
C
position
1767
score
100.0
distance
47.46563
seq distance
383
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473632.
original residue
Y
variation residue
C
position
1767
score
100.0
distance
47.46563
seq distance
383
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473179.
original residue
L
variation residue
P
position
935
score
100.0
distance
47.622627
seq distance
428
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473179.
original residue
L
variation residue
P
position
935
score
100.0
distance
47.622627
seq distance
428
chain
A
In LQT3; affects protein trafficking; dbSNP:rs199473310.
original residue
M
variation residue
L
position
1766
score
100.0
distance
47.69142
seq distance
382
chain
A
In LQT3; affects protein trafficking; dbSNP:rs199473310.
original residue
M
variation residue
L
position
1766
score
100.0
distance
47.69142
seq distance
382
chain
A
In BRGDA1 and LQT3; dbSNP:rs45546039.
original residue
R
variation residue
Q
position
222
score
100.0
distance
47.894356
seq distance
1141
chain
A
In BRGDA1 and LQT3; dbSNP:rs45546039.
original residue
R
variation residue
Q
position
222
score
100.0
distance
47.894356
seq distance
1141
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473225.
original residue
P
variation residue
L
position
1332
score
100.0
distance
47.966286
seq distance
31
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473225.
original residue
P
variation residue
L
position
1332
score
100.0
distance
47.966286
seq distance
31
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473109.
original residue
L
variation residue
V
position
409
score
100.0
distance
48.084393
seq distance
954
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473109.
original residue
L
variation residue
V
position
409
score
100.0
distance
48.084393
seq distance
954
chain
A
In LQT3; dbSNP:rs199473107.
original residue
L
variation residue
Q
position
404
score
100.0
distance
48.120907
seq distance
959
chain
A
In LQT3; dbSNP:rs199473107.
original residue
L
variation residue
Q
position
404
score
100.0
distance
48.120907
seq distance
959
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473052.
original residue
F
variation residue
S
position
221
score
50.0
distance
48.348713
seq distance
1142
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473052.
original residue
F
variation residue
S
position
221
score
50.0
distance
48.348713
seq distance
1142
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs41311127.
original residue
F
variation residue
S
position
1293
score
100.0
distance
48.46647
seq distance
70
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs41311127.
original residue
F
variation residue
S
position
1293
score
100.0
distance
48.46647
seq distance
70
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473292.
original residue
G
variation residue
R
position
1661
score
100.0
distance
48.538704
seq distance
277
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473292.
original residue
G
variation residue
R
position
1661
score
100.0
distance
48.538704
seq distance
277
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473156.
original residue
M
variation residue
R
position
764
score
100.0
distance
48.745403
seq distance
599
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473156.
original residue
M
variation residue
R
position
764
score
100.0
distance
48.745403
seq distance
599
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473164.
original residue
L
variation residue
P
position
839
score
100.0
distance
48.783707
seq distance
524
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473164.
original residue
L
variation residue
P
position
839
score
100.0
distance
48.783707
seq distance
524
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473217.
original residue
A
variation residue
G
position
1288
score
100.0
distance
48.79397
seq distance
75
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473217.
original residue
A
variation residue
G
position
1288
score
100.0
distance
48.79397
seq distance
75
chain
A
In BRGDA1; dbSNP:rs199473208.
original residue
K
variation residue
N
position
1236
score
100.0
distance
48.867752
seq distance
127
chain
A
In BRGDA1; dbSNP:rs199473208.
original residue
K
variation residue
N
position
1236
score
100.0
distance
48.867752
seq distance
127
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473219.
original residue
L
variation residue
P
position
1311
score
100.0
distance
48.962383
seq distance
52
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473219.
original residue
L
variation residue
P
position
1311
score
100.0
distance
48.962383
seq distance
52
chain
A
In BRGDA1; dbSNP:rs199473086.
original residue
V
variation residue
M
position
294
score
100.0
distance
49.05816
seq distance
1069
chain
A
In BRGDA1; dbSNP:rs199473086.
original residue
V
variation residue
M
position
294
score
100.0
distance
49.05816
seq distance
1069
chain
A
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
P
position
1330
score
100.0
distance
49.44299
seq distance
33
chain
A
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
T
position
1330
score
100.0
distance
49.44299
seq distance
33
chain
A
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
P
position
1330
score
100.0
distance
49.44299
seq distance
33
chain
A
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
T
position
1330
score
100.0
distance
49.44299
seq distance
33
chain
A
In BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane; dbSNP:rs199473625.
original residue
I
variation residue
V
position
1660
score
100.0
distance
49.54197
seq distance
276
chain
A
In BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane; dbSNP:rs199473625.
original residue
I
variation residue
V
position
1660
score
100.0
distance
49.54197
seq distance
276
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473597.
original residue
S
variation residue
N
position
1219
score
100.0
distance
49.568855
seq distance
144
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473597.
original residue
S
variation residue
N
position
1219
score
100.0
distance
49.568855
seq distance
144
chain
A
In dbSNP:rs199473191.
original residue
V
variation residue
L
position
1284
score
50.0
distance
49.718147
seq distance
79
chain
A
In dbSNP:rs199473191.
original residue
V
variation residue
L
position
1284
score
50.0
distance
49.718147
seq distance
79
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473062.
original residue
E
variation residue
K
position
161
score
100.0
distance
49.951866
seq distance
1202
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473062.
original residue
E
variation residue
Q
position
161
score
100.0
distance
49.951866
seq distance
1202
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473062.
original residue
E
variation residue
K
position
161
score
100.0
distance
49.951866
seq distance
1202
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473062.
original residue
E
variation residue
Q
position
161
score
100.0
distance
49.951866
seq distance
1202
chain
A
In LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve; dbSNP:rs199473311.
original residue
I
variation residue
V
position
1768
score
100.0
distance
50.141815
seq distance
384
chain
A
In LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve; dbSNP:rs199473311.
original residue
I
variation residue
V
position
1768
score
100.0
distance
50.141815
seq distance
384
chain
A
In LQT3; dbSNP:rs199473071.
original residue
R
variation residue
Q
position
225
score
100.0
distance
50.185112
seq distance
1138
chain
A
In PFHB1A, BRGDA1 and LQT3; dbSNP:rs199473072.
original residue
R
variation residue
W
position
225
score
100.0
distance
50.185112
seq distance
1138
chain
A
In LQT3; dbSNP:rs199473071.
original residue
R
variation residue
Q
position
225
score
100.0
distance
50.185112
seq distance
1138
chain
A
In PFHB1A, BRGDA1 and LQT3; dbSNP:rs199473072.
original residue
R
variation residue
W
position
225
score
100.0
distance
50.185112
seq distance
1138
chain
A
In LQT3; also in SIDS; dbSNP:rs137854605.
original residue
S
variation residue
N
position
941
score
81.81818181818183
distance
50.19567
seq distance
422
chain
A
In LQT3; also in SIDS; dbSNP:rs137854605.
original residue
S
variation residue
N
position
941
score
81.81818181818183
distance
50.19567
seq distance
422
chain
A
In dbSNP:rs61746118.
original residue
A
variation residue
S
position
286
score
100.0
distance
50.313572
seq distance
1077
chain
A
In dbSNP:rs61746118.
original residue
A
variation residue
S
position
286
score
100.0
distance
50.313572
seq distance
1077
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473210.
original residue
L
variation residue
P
position
1239
score
100.0
distance
50.962234
seq distance
124
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473210.
original residue
L
variation residue
P
position
1239
score
100.0
distance
50.962234
seq distance
124
chain
A
In dbSNP:rs199473211.
original residue
E
variation residue
Q
position
1240
score
100.0
distance
51.025154
seq distance
123
chain
A
In dbSNP:rs199473211.
original residue
E
variation residue
Q
position
1240
score
100.0
distance
51.025154
seq distance
123
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473079.
original residue
Q
variation residue
K
position
270
score
100.0
distance
51.05666
seq distance
1093
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473079.
original residue
Q
variation residue
K
position
270
score
100.0
distance
51.05666
seq distance
1093
chain
A
In dbSNP:rs41313697.
original residue
L
variation residue
V
position
1286
score
54.54545454545454
distance
51.19947
seq distance
77
chain
A
In dbSNP:rs41313697.
original residue
L
variation residue
V
position
1286
score
54.54545454545454
distance
51.19947
seq distance
77
chain
A
In ATFB10; dbSNP:rs199473060.
original residue
M
variation residue
I
position
138
score
100.0
distance
51.3599
seq distance
1225
chain
A
In ATFB10; dbSNP:rs199473060.
original residue
M
variation residue
I
position
138
score
100.0
distance
51.3599
seq distance
1225
chain
A
In LQT3; dbSNP:rs199473321.
original residue
D
variation residue
G
position
1280
score
50.0
distance
51.50278
seq distance
83
chain
A
In LQT3; dbSNP:rs199473321.
original residue
D
variation residue
G
position
1280
score
50.0
distance
51.50278
seq distance
83
chain
A
In BRGDA1; dbSNP:rs199473074.
original residue
I
variation residue
V
position
230
score
100.0
distance
51.537148
seq distance
1133
chain
A
In BRGDA1; dbSNP:rs199473074.
original residue
I
variation residue
V
position
230
score
100.0
distance
51.537148
seq distance
1133
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473255.
original residue
N
variation residue
S
position
1472
score
100.0
distance
51.764317
seq distance
88
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473255.
original residue
N
variation residue
S
position
1472
score
100.0
distance
51.764317
seq distance
88
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473599.
original residue
D
variation residue
N
position
1243
score
100.0
distance
52.054874
seq distance
120
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473599.
original residue
D
variation residue
N
position
1243
score
100.0
distance
52.054874
seq distance
120
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473569.
original residue
A
variation residue
E
position
413
score
100.0
distance
52.12489
seq distance
950
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473110.
original residue
A
variation residue
T
position
413
score
100.0
distance
52.12489
seq distance
950
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473569.
original residue
A
variation residue
E
position
413
score
100.0
distance
52.12489
seq distance
950
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473110.
original residue
A
variation residue
T
position
413
score
100.0
distance
52.12489
seq distance
950
chain
A
May confer susceptibility to acquired arrhythmia; dbSNP:rs7626962.
original residue
S
variation residue
Y
position
1218
score
50.0
distance
52.15781
seq distance
145
chain
A
May confer susceptibility to acquired arrhythmia; dbSNP:rs7626962.
original residue
S
variation residue
Y
position
1218
score
50.0
distance
52.15781
seq distance
145
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473221.
original residue
V
variation residue
G
position
1323
score
100.0
distance
52.243595
seq distance
40
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473221.
original residue
V
variation residue
G
position
1323
score
100.0
distance
52.243595
seq distance
40
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473216.
original residue
L
variation residue
M
position
1283
score
100.0
distance
52.46725
seq distance
80
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473216.
original residue
L
variation residue
M
position
1283
score
100.0
distance
52.46725
seq distance
80
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473076.
original residue
V
variation residue
M
position
240
score
100.0
distance
52.653942
seq distance
1123
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473076.
original residue
V
variation residue
M
position
240
score
100.0
distance
52.653942
seq distance
1123
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473222.
original residue
A
variation residue
S
position
1326
score
100.0
distance
52.713696
seq distance
37
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473222.
original residue
A
variation residue
S
position
1326
score
100.0
distance
52.713696
seq distance
37
chain
A
In LQT3; dbSNP:rs199473256.
original residue
F
variation residue
C
position
1473
score
100.0
distance
52.71579
seq distance
89
chain
A
In LQT3; dbSNP:rs199473256.
original residue
F
variation residue
C
position
1473
score
100.0
distance
52.71579
seq distance
89
chain
A
In LQT3 and PFHB1A; dbSNP:rs199473282.
original residue
T
variation residue
K
position
1620
score
100.0
distance
52.732197
seq distance
236
chain
A
In BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range; dbSNP:rs199473282.
original residue
T
variation residue
M
position
1620
score
100.0
distance
52.732197
seq distance
236
chain
A
In LQT3 and PFHB1A; dbSNP:rs199473282.
original residue
T
variation residue
K
position
1620
score
100.0
distance
52.732197
seq distance
236
chain
A
In BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range; dbSNP:rs199473282.
original residue
T
variation residue
M
position
1620
score
100.0
distance
52.732197
seq distance
236
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473078.
original residue
V
variation residue
L
position
247
score
100.0
distance
53.28223
seq distance
1116
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473078.
original residue
V
variation residue
L
position
247
score
100.0
distance
53.28223
seq distance
1116
chain
A
In LQT3; dbSNP:rs72549410.
original residue
V
variation residue
M
position
411
score
100.0
distance
53.523388
seq distance
952
chain
A
In LQT3; dbSNP:rs72549410.
original residue
V
variation residue
M
position
411
score
100.0
distance
53.523388
seq distance
952
chain
A
In LQT3; dbSNP:rs28937317.
original residue
N
variation residue
S
position
1325
score
100.0
distance
53.735966
seq distance
38
chain
A
In LQT3; dbSNP:rs28937317.
original residue
N
variation residue
S
position
1325
score
100.0
distance
53.735966
seq distance
38
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473271.
original residue
E
variation residue
K
position
1548
score
100.0
distance
53.92691
seq distance
164
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473271.
original residue
E
variation residue
K
position
1548
score
100.0
distance
53.92691
seq distance
164
chain
A
In CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials; dbSNP:rs137854618.
original residue
D
variation residue
N
position
1275
score
100.0
distance
53.998066
seq distance
88
chain
A
In CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials; dbSNP:rs137854618.
original residue
D
variation residue
N
position
1275
score
100.0
distance
53.998066
seq distance
88
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473084.
original residue
G
variation residue
S
position
289
score
100.0
distance
54.09036
seq distance
1074
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473084.
original residue
G
variation residue
S
position
289
score
100.0
distance
54.09036
seq distance
1074
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473559.
original residue
A
variation residue
V
position
204
score
100.0
distance
54.732437
seq distance
1159
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473559.
original residue
A
variation residue
V
position
204
score
100.0
distance
54.732437
seq distance
1159
chain
A
In LQT3; dbSNP:rs137854600.
original residue
R
variation residue
L
position
1623
score
100.0
distance
54.845158
seq distance
239
chain
A
In LQT3 and BRGDA1; dbSNP:rs137854600.
original residue
R
variation residue
Q
position
1623
score
100.0
distance
54.845158
seq distance
239
chain
A
In LQT3; dbSNP:rs137854600.
original residue
R
variation residue
L
position
1623
score
100.0
distance
54.845158
seq distance
239
chain
A
In LQT3 and BRGDA1; dbSNP:rs137854600.
original residue
R
variation residue
Q
position
1623
score
100.0
distance
54.845158
seq distance
239
chain
A
In LQT3 and BRGDA1.
original residue
variation residue
position
1617
score
100.0
distance
54.991146
seq distance
233
chain
A
In LQT3 and BRGDA1.
original residue
variation residue
position
1617
score
100.0
distance
54.991146
seq distance
233
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473557.
original residue
L
variation residue
P
position
136
score
100.0
distance
55.15533
seq distance
1227
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473557.
original residue
L
variation residue
P
position
136
score
100.0
distance
55.15533
seq distance
1227
chain
A
In LQT3; dbSNP:rs199473615.
original residue
F
variation residue
L
position
1486
score
100.0
distance
55.15677
seq distance
102
chain
A
In LQT3; dbSNP:rs199473615.
original residue
F
variation residue
L
position
1486
score
100.0
distance
55.15677
seq distance
102
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs45471994.
original residue
V
variation residue
I
position
232
score
100.0
distance
55.196365
seq distance
1131
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs45471994.
original residue
V
variation residue
I
position
232
score
100.0
distance
55.196365
seq distance
1131
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473149.
original residue
P
variation residue
L
position
717
score
100.0
distance
55.273815
seq distance
646
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473149.
original residue
P
variation residue
L
position
717
score
100.0
distance
55.273815
seq distance
646
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473601.
original residue
W
variation residue
C
position
1271
score
100.0
distance
55.93778
seq distance
92
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473601.
original residue
W
variation residue
C
position
1271
score
100.0
distance
55.93778
seq distance
92
chain
A
In BRGDA1; dbSNP:rs199473220.
original residue
G
variation residue
V
position
1319
score
100.0
distance
55.992634
seq distance
44
chain
A
In BRGDA1; dbSNP:rs199473220.
original residue
G
variation residue
V
position
1319
score
100.0
distance
55.992634
seq distance
44
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473290.
original residue
L
variation residue
F
position
1650
score
100.0
distance
56.210884
seq distance
266
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473290.
original residue
L
variation residue
F
position
1650
score
100.0
distance
56.210884
seq distance
266
chain
A
In LQT3; dbSNP:rs199473070.
original residue
L
variation residue
P
position
212
score
100.0
distance
56.358425
seq distance
1151
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473070.
original residue
L
variation residue
Q
position
212
score
100.0
distance
56.358425
seq distance
1151
chain
A
In LQT3; dbSNP:rs199473070.
original residue
L
variation residue
P
position
212
score
100.0
distance
56.358425
seq distance
1151
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473070.
original residue
L
variation residue
Q
position
212
score
100.0
distance
56.358425
seq distance
1151
chain
A
Induces accelerated recovery from channel fast inactivation.
original residue
Q
variation residue
K
position
1476
score
100.0
distance
56.803345
seq distance
92
chain
A
Induces accelerated recovery from channel fast inactivation.
original residue
Q
variation residue
K
position
1476
score
100.0
distance
56.803345
seq distance
92
chain
A
In dbSNP:rs199473563.
original residue
N
variation residue
S
position
291
score
100.0
distance
56.931267
seq distance
1072
chain
A
In dbSNP:rs199473563.
original residue
N
variation residue
S
position
291
score
100.0
distance
56.931267
seq distance
1072
chain
A
In LQT3; dbSNP:rs199473077.
original residue
Q
variation residue
K
position
245
score
100.0
distance
57.02544
seq distance
1118
chain
A
In LQT3; dbSNP:rs199473077.
original residue
Q
variation residue
K
position
245
score
100.0
distance
57.02544
seq distance
1118
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473158.
original residue
P
variation residue
S
position
773
score
100.0
distance
57.355396
seq distance
590
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473158.
original residue
P
variation residue
S
position
773
score
100.0
distance
57.355396
seq distance
590
chain
A
In LQT3; drug-induced LQT syndrome; dbSNP:rs45589741.
original residue
F
variation residue
L
position
1250
score
100.0
distance
57.859924
seq distance
113
chain
A
In LQT3; drug-induced LQT syndrome; dbSNP:rs45589741.
original residue
F
variation residue
L
position
1250
score
100.0
distance
57.859924
seq distance
113
chain
A
In BRGDA1; dbSNP:rs199473289.
original residue
A
variation residue
V
position
1649
score
100.0
distance
58.234093
seq distance
265
chain
A
In LQT3; dbSNP:rs199473330.
original residue
A
variation residue
S
position
1649
score
54.54545454545454
distance
58.234093
seq distance
265
chain
A
In BRGDA1; dbSNP:rs199473289.
original residue
A
variation residue
V
position
1649
score
100.0
distance
58.234093
seq distance
265
chain
A
In LQT3; dbSNP:rs199473330.
original residue
A
variation residue
S
position
1649
score
54.54545454545454
distance
58.234093
seq distance
265
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473258.
original residue
M
variation residue
L
position
1487
score
100.0
distance
58.501373
seq distance
103
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473258.
original residue
M
variation residue
L
position
1487
score
100.0
distance
58.501373
seq distance
103
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
H
position
1626
score
100.0
distance
58.63146
seq distance
242
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
P
position
1626
score
100.0
distance
58.63146
seq distance
242
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
H
position
1626
score
100.0
distance
58.63146
seq distance
242
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
P
position
1626
score
100.0
distance
58.63146
seq distance
242
chain
A
In dbSNP:rs199473600.
original residue
V
variation residue
M
position
1251
score
100.0
distance
58.637707
seq distance
112
chain
A
In dbSNP:rs199473600.
original residue
V
variation residue
M
position
1251
score
100.0
distance
58.637707
seq distance
112
chain
A
In LQT3; unknown pathological significance; dbSNP:rs794728920.
original residue
variation residue
position
1212
score
100.0
distance
59.009007
seq distance
151
chain
A
In LQT3; unknown pathological significance; dbSNP:rs794728920.
original residue
variation residue
position
1212
score
100.0
distance
59.009007
seq distance
151
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473056.
original residue
N
variation residue
K
position
1269
score
54.54545454545454
distance
60.00833
seq distance
94
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473056.
original residue
N
variation residue
K
position
1269
score
54.54545454545454
distance
60.00833
seq distance
94
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473213.
original residue
V
variation residue
D
position
1249
score
100.0
distance
60.03598
seq distance
114
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473213.
original residue
V
variation residue
D
position
1249
score
100.0
distance
60.03598
seq distance
114
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473157.
original residue
D
variation residue
N
position
772
score
100.0
distance
60.19107
seq distance
591
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473157.
original residue
D
variation residue
N
position
772
score
100.0
distance
60.19107
seq distance
591
chain
A
In LQT3; dbSNP:rs199473291.
original residue
M
variation residue
R
position
1652
score
100.0
distance
60.44722
seq distance
268
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473291.
original residue
M
variation residue
T
position
1652
score
100.0
distance
60.44722
seq distance
268
chain
A
In LQT3; dbSNP:rs199473291.
original residue
M
variation residue
R
position
1652
score
100.0
distance
60.44722
seq distance
268
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473291.
original residue
M
variation residue
T
position
1652
score
100.0
distance
60.44722
seq distance
268
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473259.
original residue
T
variation residue
R
position
1488
score
100.0
distance
60.905315
seq distance
104
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473259.
original residue
T
variation residue
R
position
1488
score
100.0
distance
60.905315
seq distance
104
chain
A
In BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation; dbSNP:rs199473180.
original residue
R
variation residue
C
position
1629
score
59.09090909090909
distance
60.98278
seq distance
245
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
H
position
1629
score
59.09090909090909
distance
60.98278
seq distance
245
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
L
position
1629
score
59.09090909090909
distance
60.98278
seq distance
245
chain
A
In BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation; dbSNP:rs199473623.
original residue
R
variation residue
Q
position
1629
score
100.0
distance
60.98278
seq distance
245
chain
A
In BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation; dbSNP:rs199473180.
original residue
R
variation residue
C
position
1629
score
59.09090909090909
distance
60.98278
seq distance
245
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
H
position
1629
score
59.09090909090909
distance
60.98278
seq distance
245
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
L
position
1629
score
59.09090909090909
distance
60.98278
seq distance
245
chain
A
In BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation; dbSNP:rs199473623.
original residue
R
variation residue
Q
position
1629
score
100.0
distance
60.98278
seq distance
245
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473624.
original residue
G
variation residue
E
position
1642
score
100.0
distance
61.57776
seq distance
258
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473624.
original residue
G
variation residue
E
position
1642
score
100.0
distance
61.57776
seq distance
258
chain
A
In LQT3; dbSNP:rs199473288.
original residue
T
variation residue
M
position
1645
score
100.0
distance
61.79237
seq distance
261
chain
A
In LQT3; dbSNP:rs199473288.
original residue
T
variation residue
M
position
1645
score
100.0
distance
61.79237
seq distance
261
chain
A
In BRGDA1.
original residue
variation residue
position
1479
score
100.0
distance
61.886482
seq distance
95
chain
A
In BRGDA1.
original residue
variation residue
position
1479
score
100.0
distance
61.886482
seq distance
95
chain
A
In LQT3; dbSNP:rs199473314.
original residue
V
variation residue
M
position
1777
score
90.9090909090909
distance
62.06572
seq distance
393
chain
A
In LQT3; dbSNP:rs199473314.
original residue
V
variation residue
M
position
1777
score
90.9090909090909
distance
62.06572
seq distance
393
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473214.
original residue
E
variation residue
G
position
1253
score
100.0
distance
62.255203
seq distance
110
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473214.
original residue
E
variation residue
G
position
1253
score
100.0
distance
62.255203
seq distance
110
chain
A
In LQT3; dbSNP:rs199473287.
original residue
R
variation residue
C
position
1644
score
100.0
distance
62.393703
seq distance
260
chain
A
In LQT3; dbSNP:rs28937316.
original residue
R
variation residue
H
position
1644
score
100.0
distance
62.393703
seq distance
260
chain
A
In LQT3; dbSNP:rs199473287.
original residue
R
variation residue
C
position
1644
score
100.0
distance
62.393703
seq distance
260
chain
A
In LQT3; dbSNP:rs28937316.
original residue
R
variation residue
H
position
1644
score
100.0
distance
62.393703
seq distance
260
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473619.
original residue
L
variation residue
F
position
1560
score
100.0
distance
62.42384
seq distance
176
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473619.
original residue
L
variation residue
F
position
1560
score
100.0
distance
62.42384
seq distance
176
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473634.
original residue
T
variation residue
M
position
1779
score
72.72727272727273
distance
63.630985
seq distance
395
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473634.
original residue
T
variation residue
M
position
1779
score
72.72727272727273
distance
63.630985
seq distance
395
chain
A
In LQT3; dbSNP:rs199473622.
original residue
S
variation residue
W
position
1609
score
100.0
distance
64.30422
seq distance
225
chain
A
In LQT3; dbSNP:rs199473622.
original residue
S
variation residue
W
position
1609
score
100.0
distance
64.30422
seq distance
225
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473262.
original residue
Y
variation residue
S
position
1495
score
100.0
distance
64.417946
seq distance
111
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473262.
original residue
Y
variation residue
S
position
1495
score
100.0
distance
64.417946
seq distance
111
chain
A
4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
original residue
K
variation residue
A
position
1614
score
100.0
distance
64.46822
seq distance
230
chain
A
4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
original residue
K
variation residue
A
position
1614
score
100.0
distance
64.46822
seq distance
230
chain
A
In dbSNP:rs45553235.
original residue
Q
variation residue
K
position
1613
score
50.0
distance
64.56036
seq distance
229
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473281.
original residue
Q
variation residue
L
position
1613
score
100.0
distance
64.56036
seq distance
229
chain
A
In dbSNP:rs45553235.
original residue
Q
variation residue
K
position
1613
score
50.0
distance
64.56036
seq distance
229
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473281.
original residue
Q
variation residue
L
position
1613
score
100.0
distance
64.56036
seq distance
229
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473616.
original residue
E
variation residue
D
position
1489
score
100.0
distance
64.61732
seq distance
105
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473616.
original residue
E
variation residue
D
position
1489
score
100.0
distance
64.61732
seq distance
105
chain
A
Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
original residue
D
variation residue
A
position
1610
score
100.0
distance
65.175186
seq distance
226
chain
A
High decrease in affinity to the sea anemone toxin anthopleurin-B.
original residue
D
variation residue
R
position
1610
score
100.0
distance
65.175186
seq distance
226
chain
A
Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
original residue
D
variation residue
A
position
1610
score
100.0
distance
65.175186
seq distance
226
chain
A
High decrease in affinity to the sea anemone toxin anthopleurin-B.
original residue
D
variation residue
R
position
1610
score
100.0
distance
65.175186
seq distance
226
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473063.
original residue
K
variation residue
N
position
175
score
100.0
distance
65.21082
seq distance
1188
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473063.
original residue
K
variation residue
N
position
175
score
100.0
distance
65.21082
seq distance
1188
chain
A
In LQT3; dbSNP:rs199473257.
original residue
G
variation residue
E
position
1481
score
100.0
distance
65.96933
seq distance
97
chain
A
In LQT3; dbSNP:rs199473257.
original residue
G
variation residue
E
position
1481
score
100.0
distance
65.96933
seq distance
97
chain
A
In BRGDA1; dbSNP:rs199473261.
original residue
Y
variation residue
N
position
1494
score
100.0
distance
66.018814
seq distance
110
chain
A
In BRGDA1; dbSNP:rs199473261.
original residue
Y
variation residue
N
position
1494
score
100.0
distance
66.018814
seq distance
110
chain
A
Found in a patient with long QT syndrome; unknown pathological significance; dbSNP:rs199473263.
original residue
M
variation residue
T
position
1498
score
100.0
distance
66.76037
seq distance
114
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473264.
original residue
M
variation residue
V
position
1498
score
100.0
distance
66.76037
seq distance
114
chain
A
Found in a patient with long QT syndrome; unknown pathological significance; dbSNP:rs199473263.
original residue
M
variation residue
T
position
1498
score
100.0
distance
66.76037
seq distance
114
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473264.
original residue
M
variation residue
V
position
1498
score
100.0
distance
66.76037
seq distance
114
chain
A
In dbSNP:rs199473148.
original residue
S
variation residue
F
position
705
score
100.0
distance
66.88137
seq distance
658
chain
A
In dbSNP:rs199473148.
original residue
S
variation residue
F
position
705
score
100.0
distance
66.88137
seq distance
658
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473260.
original residue
K
variation residue
R
position
1493
score
100.0
distance
67.45221
seq distance
109
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473260.
original residue
K
variation residue
R
position
1493
score
100.0
distance
67.45221
seq distance
109
chain
A
In ATFB10; dbSNP:rs199473111.
original residue
E
variation residue
K
position
428
score
63.63636363636363
distance
68.08965
seq distance
935
chain
A
In ATFB10; dbSNP:rs199473111.
original residue
E
variation residue
K
position
428
score
63.63636363636363
distance
68.08965
seq distance
935
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs137854616.
original residue
G
variation residue
S
position
1262
score
100.0
distance
68.17306
seq distance
101
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs137854616.
original residue
G
variation residue
S
position
1262
score
100.0
distance
68.17306
seq distance
101
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473280.
original residue
V
variation residue
M
position
1604
score
100.0
distance
68.41148
seq distance
220
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473280.
original residue
V
variation residue
M
position
1604
score
100.0
distance
68.41148
seq distance
220
chain
A
In BRGDA1; dbSNP:rs199473267.
original residue
G
variation residue
S
position
1502
score
100.0
distance
68.558
seq distance
118
chain
A
In BRGDA1; dbSNP:rs199473267.
original residue
G
variation residue
S
position
1502
score
100.0
distance
68.558
seq distance
118
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473277.
original residue
F
variation residue
S
position
1594
score
100.0
distance
68.69407
seq distance
210
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473277.
original residue
F
variation residue
S
position
1594
score
100.0
distance
68.69407
seq distance
210
chain
A
In PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3; dbSNP:rs137854607.
original residue
D
variation residue
N
position
1595
score
100.0
distance
69.76382
seq distance
211
chain
A
In PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3; dbSNP:rs137854607.
original residue
D
variation residue
N
position
1595
score
100.0
distance
69.76382
seq distance
211
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473266.
original residue
L
variation residue
V
position
1501
score
100.0
distance
69.79514
seq distance
117
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473266.
original residue
L
variation residue
V
position
1501
score
100.0
distance
69.79514
seq distance
117
chain
A
In BRGDA1; dbSNP:rs185492581.
original residue
K
variation residue
E
position
126
score
100.0
distance
70.103676
seq distance
1237
chain
A
In BRGDA1; dbSNP:rs185492581.
original residue
K
variation residue
E
position
126
score
100.0
distance
70.103676
seq distance
1237
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473147.
original residue
P
variation residue
L
position
701
score
72.72727272727273
distance
70.318794
seq distance
662
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473147.
original residue
P
variation residue
L
position
701
score
72.72727272727273
distance
70.318794
seq distance
662
chain
A
In LQT3; dbSNP:rs199473059.
original residue
V
variation residue
L
position
125
score
100.0
distance
70.367096
seq distance
1238
chain
A
In LQT3; dbSNP:rs199473059.
original residue
V
variation residue
L
position
125
score
100.0
distance
70.367096
seq distance
1238
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473065.
original residue
A
variation residue
G
position
178
score
100.0
distance
70.48268
seq distance
1185
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473065.
original residue
A
variation residue
G
position
178
score
100.0
distance
70.48268
seq distance
1185
chain
A
In dbSNP:rs199473265.
original residue
K
variation residue
N
position
1500
score
100.0
distance
70.6647
seq distance
116
chain
A
In BRGDA1.
original residue
variation residue
position
1500
score
100.0
distance
70.6647
seq distance
116
chain
A
In dbSNP:rs199473265.
original residue
K
variation residue
N
position
1500
score
100.0
distance
70.6647
seq distance
116
chain
A
In BRGDA1.
original residue
variation residue
position
1500
score
100.0
distance
70.6647
seq distance
116
chain
A
In LQT3; unknown pathological significance; dbSNP:rs761375502.
original residue
variation residue
position
429
score
54.54545454545454
distance
71.07033
seq distance
934
chain
A
In LQT3; unknown pathological significance; dbSNP:rs761375502.
original residue
variation residue
position
429
score
54.54545454545454
distance
71.07033
seq distance
934
chain
A
In BRGDA1; loss of function; dbSNP:rs199473558.
original residue
T
variation residue
I
position
187
score
100.0
distance
71.11208
seq distance
1176
chain
A
In BRGDA1; loss of function; dbSNP:rs199473558.
original residue
T
variation residue
I
position
187
score
100.0
distance
71.11208
seq distance
1176
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473618.
original residue
V
variation residue
I
position
1532
score
100.0
distance
71.68692
seq distance
148
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473618.
original residue
V
variation residue
I
position
1532
score
100.0
distance
71.68692
seq distance
148
chain
A
Phosphoserine; by PKC
position
1503
score
100.0
distance
71.70645
seq distance
119
chain
A
Phosphoserine; by PKC
position
1503
score
100.0
distance
71.70645
seq distance
119
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473274.
original residue
F
variation residue
C
position
1571
score
100.0
distance
71.72094
seq distance
187
chain
A
In BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest; dbSNP:rs1369632373.
original residue
F
variation residue
L
position
1571
score
100.0
distance
71.72094
seq distance
187
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473274.
original residue
F
variation residue
C
position
1571
score
100.0
distance
71.72094
seq distance
187
chain
A
In BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest; dbSNP:rs1369632373.
original residue
F
variation residue
L
position
1571
score
100.0
distance
71.72094
seq distance
187
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473202.
original residue
Y
variation residue
S
position
1199
score
100.0
distance
71.91558
seq distance
164
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473202.
original residue
Y
variation residue
S
position
1199
score
100.0
distance
71.91558
seq distance
164
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473278.
original residue
F
variation residue
I
position
1596
score
100.0
distance
72.09661
seq distance
212
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473278.
original residue
F
variation residue
I
position
1596
score
100.0
distance
72.09661
seq distance
212
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473067.
original residue
A
variation residue
V
position
185
score
100.0
distance
72.35227
seq distance
1178
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473067.
original residue
A
variation residue
V
position
185
score
100.0
distance
72.35227
seq distance
1178
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473276.
original residue
I
variation residue
M
position
1593
score
100.0
distance
72.37478
seq distance
209
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473276.
original residue
I
variation residue
M
position
1593
score
100.0
distance
72.37478
seq distance
209
chain
A
In BRGDA1; asymptomatic patient; associated with R-1527; dbSNP:rs199473273.
original residue
A
variation residue
P
position
1569
score
100.0
distance
72.89235
seq distance
185
chain
A
In BRGDA1; asymptomatic patient; associated with R-1527; dbSNP:rs199473273.
original residue
A
variation residue
P
position
1569
score
100.0
distance
72.89235
seq distance
185
chain
A
In dbSNP:rs199473125.
original residue
R
variation residue
H
position
1195
score
50.0
distance
74.550354
seq distance
168
chain
A
In dbSNP:rs199473125.
original residue
R
variation residue
H
position
1195
score
50.0
distance
74.550354
seq distance
168
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473058.
original residue
R
variation residue
Q
position
121
score
72.72727272727273
distance
74.69495
seq distance
1242
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473556.
original residue
R
variation residue
W
position
121
score
72.72727272727273
distance
74.69495
seq distance
1242
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473058.
original residue
R
variation residue
Q
position
121
score
72.72727272727273
distance
74.69495
seq distance
1242
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473556.
original residue
R
variation residue
W
position
121
score
72.72727272727273
distance
74.69495
seq distance
1242
chain
A
In LQT3.
original residue
variation residue
begin
1505
end
1507
score
100.0
distance
75.15899
seq distance
121
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473268.
original residue
K
variation residue
N
position
1505
score
100.0
distance
75.15899
seq distance
121
chain
A
In LQT3.
original residue
variation residue
begin
1505
end
1507
score
100.0
distance
75.15899
seq distance
121
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473268.
original residue
K
variation residue
N
position
1505
score
100.0
distance
75.15899
seq distance
121
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473066.
original residue
C
variation residue
R
position
182
score
100.0
distance
75.686874
seq distance
1181
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473066.
original residue
C
variation residue
R
position
182
score
100.0
distance
75.686874
seq distance
1181
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473620.
original residue
E
variation residue
K
position
1574
score
100.0
distance
76.255486
seq distance
190
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473620.
original residue
E
variation residue
K
position
1574
score
100.0
distance
76.255486
seq distance
190
chain
A
In BRGDA1; dbSNP:rs199473124.
original residue
L
variation residue
Q
position
1194
score
50.0
distance
76.9335
seq distance
169
chain
A
In BRGDA1; dbSNP:rs199473124.
original residue
L
variation residue
Q
position
1194
score
50.0
distance
76.9335
seq distance
169
chain
A
In LQT3.
original residue
variation residue
begin
1507
end
1509
score
100.0
distance
79.82952
seq distance
123
chain
A
In LQT3.
original residue
variation residue
begin
1507
end
1509
score
100.0
distance
79.82952
seq distance
123
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
G
position
1193
score
50.0
distance
79.92583
seq distance
170
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473554.
original residue
R
variation residue
Q
position
1193
score
50.0
distance
79.92583
seq distance
170
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
W
position
1193
score
50.0
distance
79.92583
seq distance
170
chain
A
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344.
original residue
R
variation residue
Q
position
1193
score
100.0
distance
79.92583
seq distance
170
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
G
position
1193
score
50.0
distance
79.92583
seq distance
170
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473554.
original residue
R
variation residue
Q
position
1193
score
50.0
distance
79.92583
seq distance
170
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
W
position
1193
score
50.0
distance
79.92583
seq distance
170
chain
A
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344.
original residue
R
variation residue
Q
position
1193
score
100.0
distance
79.92583
seq distance
170
chain
A
In BRGDA1; asymptomatic patient; associated with P-1569; dbSNP:rs199473270.
original residue
K
variation residue
R
position
1527
score
100.0
distance
80.951035
seq distance
143
chain
A
In BRGDA1; asymptomatic patient; associated with P-1569; dbSNP:rs199473270.
original residue
K
variation residue
R
position
1527
score
100.0
distance
80.951035
seq distance
143
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473269.
original residue
V
variation residue
M
position
1525
score
100.0
distance
81.279976
seq distance
141
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473269.
original residue
V
variation residue
M
position
1525
score
100.0
distance
81.279976
seq distance
141
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473275.
original residue
L
variation residue
P
position
1582
score
100.0
distance
84.15052
seq distance
198
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473275.
original residue
L
variation residue
P
position
1582
score
100.0
distance
84.15052
seq distance
198
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs45514691.
original residue
R
variation residue
C
position
1583
score
100.0
distance
85.10115
seq distance
199
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473621.
original residue
R
variation residue
H
position
1583
score
100.0
distance
85.10115
seq distance
199
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs45514691.
original residue
R
variation residue
C
position
1583
score
100.0
distance
85.10115
seq distance
199
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473621.
original residue
R
variation residue
H
position
1583
score
100.0
distance
85.10115
seq distance
199
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473617.
original residue
I
variation residue
K
position
1521
score
100.0
distance
87.39257
seq distance
137
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473617.
original residue
I
variation residue
K
position
1521
score
100.0
distance
87.39257
seq distance
137
chain
A
In BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke; dbSNP:rs137854602.
original residue
R
variation residue
W
position
1512
score
100.0
distance
89.52973
seq distance
128
chain
A
In BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke; dbSNP:rs137854602.
original residue
R
variation residue
W
position
1512
score
100.0
distance
89.52973
seq distance
128
chain
A

Details

Redox score
76.43
PDB code
7dtc
Structure name
voltage-gated sodium channel nav1.5-e1784k
Structure deposition date
2021-01-04
Thiol separation (Å)
2.03
Half-sphere exposure sum
68
Minimum pKa
nan
% buried
nan
Peptide accession
Q14524
Residue number A
1363
Residue number B
1384
Peptide name
Sodium channel protein type 5 subunit alpha
A redox-regulated disulphide may form within Sodium channel protein type 5 subunit alpha at these cysteines.

Relevent regions

In BRGDA1; unknown pathological significance; dbSNP:rs199473092.
original residue
L
variation residue
R
position
325
score
100.0
distance
3.788655
seq distance
1
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473092.
original residue
L
variation residue
R
position
325
score
100.0
distance
3.788655
seq distance
1
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473562.
original residue
H
variation residue
D
position
278
score
100.0
distance
6.380157
seq distance
2
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473562.
original residue
H
variation residue
D
position
278
score
100.0
distance
6.380157
seq distance
2
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473564.
original residue
L
variation residue
P
position
315
score
100.0
distance
6.619106
seq distance
11
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473564.
original residue
L
variation residue
P
position
315
score
100.0
distance
6.619106
seq distance
11
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473094.
original residue
R
variation residue
W
position
340
score
100.0
distance
7.0106583
seq distance
14
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473094.
original residue
R
variation residue
W
position
340
score
100.0
distance
7.0106583
seq distance
14
chain
B
In BRGDA1; severe reduction of sodium currents; dbSNP:rs199473093.
original residue
P
variation residue
L
position
336
score
100.0
distance
7.350863
seq distance
10
chain
B
In BRGDA1; severe reduction of sodium currents; dbSNP:rs199473093.
original residue
P
variation residue
L
position
336
score
100.0
distance
7.350863
seq distance
10
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473082.
original residue
R
variation residue
C
position
282
score
100.0
distance
9.267723
seq distance
2
chain
B
In BRGDA1; dbSNP:rs199473083.
original residue
R
variation residue
H
position
282
score
100.0
distance
9.267723
seq distance
2
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473082.
original residue
R
variation residue
C
position
282
score
100.0
distance
9.267723
seq distance
2
chain
B
In BRGDA1; dbSNP:rs199473083.
original residue
R
variation residue
H
position
282
score
100.0
distance
9.267723
seq distance
2
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473081.
original residue
L
variation residue
Q
position
276
score
100.0
distance
10.594569
seq distance
4
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473081.
original residue
L
variation residue
Q
position
276
score
100.0
distance
10.594569
seq distance
4
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473567.
original residue
G
variation residue
E
position
386
score
100.0
distance
11.55873
seq distance
60
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473102.
original residue
G
variation residue
R
position
386
score
100.0
distance
11.55873
seq distance
60
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473567.
original residue
G
variation residue
E
position
386
score
100.0
distance
11.55873
seq distance
60
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473102.
original residue
G
variation residue
R
position
386
score
100.0
distance
11.55873
seq distance
60
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; no effect on voltage dependence for activation and inactivation; dbSNP:rs1060499900.
original residue
D
variation residue
N
position
1690
score
100.0
distance
11.865322
seq distance
1364
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; no effect on voltage dependence for activation and inactivation; dbSNP:rs1060499900.
original residue
D
variation residue
N
position
1690
score
100.0
distance
11.865322
seq distance
1364
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473080.
original residue
N
variation residue
K
position
275
score
100.0
distance
12.262706
seq distance
5
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473080.
original residue
N
variation residue
K
position
275
score
100.0
distance
12.262706
seq distance
5
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473091.
original residue
T
variation residue
N
position
320
score
100.0
distance
14.376233
seq distance
6
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473091.
original residue
T
variation residue
N
position
320
score
100.0
distance
14.376233
seq distance
6
chain
B
In LQT3; dbSNP:rs199473043.
original residue
G
variation residue
V
position
319
score
50.0
distance
15.405404
seq distance
7
chain
B
In BRGDA1; dbSNP:rs199473090.
original residue
G
variation residue
S
position
319
score
100.0
distance
15.405404
seq distance
7
chain
B
In LQT3; dbSNP:rs199473043.
original residue
G
variation residue
V
position
319
score
50.0
distance
15.405404
seq distance
7
chain
B
In BRGDA1; dbSNP:rs199473090.
original residue
G
variation residue
S
position
319
score
100.0
distance
15.405404
seq distance
7
chain
B
In dbSNP:rs199473100.
original residue
R
variation residue
C
position
376
score
100.0
distance
15.895377
seq distance
50
chain
B
In BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation; dbSNP:rs199473101.
original residue
R
variation residue
H
position
376
score
100.0
distance
15.895377
seq distance
50
chain
B
In dbSNP:rs199473100.
original residue
R
variation residue
C
position
376
score
100.0
distance
15.895377
seq distance
50
chain
B
In BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation; dbSNP:rs199473101.
original residue
R
variation residue
H
position
376
score
100.0
distance
15.895377
seq distance
50
chain
B
In BRGDA1; dbSNP:rs199473096.
original residue
T
variation residue
I
position
353
score
100.0
distance
16.708687
seq distance
27
chain
B
In BRGDA1; dbSNP:rs199473096.
original residue
T
variation residue
I
position
353
score
100.0
distance
16.708687
seq distance
27
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473095.
original residue
G
variation residue
D
position
351
score
100.0
distance
16.998611
seq distance
25
chain
B
In BRGDA1; 7-fold current reduction; dbSNP:rs199473095.
original residue
G
variation residue
V
position
351
score
100.0
distance
16.998611
seq distance
25
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473095.
original residue
G
variation residue
D
position
351
score
100.0
distance
16.998611
seq distance
25
chain
B
In BRGDA1; 7-fold current reduction; dbSNP:rs199473095.
original residue
G
variation residue
V
position
351
score
100.0
distance
16.998611
seq distance
25
chain
B
In LQT3 and PFHB1A; dbSNP:rs199473282.
original residue
T
variation residue
K
position
1620
score
100.0
distance
18.277613
seq distance
1294
chain
B
In BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range; dbSNP:rs199473282.
original residue
T
variation residue
M
position
1620
score
100.0
distance
18.277613
seq distance
1294
chain
B
In LQT3 and PFHB1A; dbSNP:rs199473282.
original residue
T
variation residue
K
position
1620
score
100.0
distance
18.277613
seq distance
1294
chain
B
In BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range; dbSNP:rs199473282.
original residue
T
variation residue
M
position
1620
score
100.0
distance
18.277613
seq distance
1294
chain
B
In BRGDA1; loss of function; dbSNP:rs199473565.
original residue
D
variation residue
N
position
356
score
100.0
distance
18.74988
seq distance
30
chain
B
In BRGDA1; loss of function; dbSNP:rs199473565.
original residue
D
variation residue
N
position
356
score
100.0
distance
18.74988
seq distance
30
chain
B
In LQT3 and BRGDA1.
original residue
variation residue
position
1617
score
100.0
distance
19.086176
seq distance
1291
chain
B
In LQT3 and BRGDA1.
original residue
variation residue
position
1617
score
100.0
distance
19.086176
seq distance
1291
chain
B
In PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance; dbSNP:rs137854608.
original residue
G
variation residue
S
position
298
score
100.0
distance
19.866093
seq distance
18
chain
B
In PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance; dbSNP:rs137854608.
original residue
G
variation residue
S
position
298
score
100.0
distance
19.866093
seq distance
18
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473295.
original residue
A
variation residue
T
position
1698
score
100.0
distance
19.92735
seq distance
1372
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473295.
original residue
A
variation residue
T
position
1698
score
100.0
distance
19.92735
seq distance
1372
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473566.
original residue
W
variation residue
G
position
374
score
100.0
distance
20.122639
seq distance
48
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473566.
original residue
W
variation residue
G
position
374
score
100.0
distance
20.122639
seq distance
48
chain
B
In dbSNP:rs61746118.
original residue
A
variation residue
S
position
286
score
100.0
distance
20.8584
seq distance
6
chain
B
In dbSNP:rs61746118.
original residue
A
variation residue
S
position
286
score
100.0
distance
20.8584
seq distance
6
chain
B
In dbSNP:rs199473087.
original residue
L
variation residue
M
position
299
score
100.0
distance
21.097214
seq distance
19
chain
B
In dbSNP:rs199473087.
original residue
L
variation residue
M
position
299
score
100.0
distance
21.097214
seq distance
19
chain
B
In BRGDA1.
original residue
variation residue
position
393
score
100.0
distance
21.516794
seq distance
67
chain
B
In BRGDA1.
original residue
variation residue
position
393
score
100.0
distance
21.516794
seq distance
67
chain
B
In BRGDA1; dbSNP:rs199473086.
original residue
V
variation residue
M
position
294
score
100.0
distance
22.02645
seq distance
14
chain
B
In BRGDA1; dbSNP:rs199473086.
original residue
V
variation residue
M
position
294
score
100.0
distance
22.02645
seq distance
14
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473088.
original residue
V
variation residue
I
position
300
score
100.0
distance
22.181793
seq distance
20
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473088.
original residue
V
variation residue
I
position
300
score
100.0
distance
22.181793
seq distance
20
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473079.
original residue
Q
variation residue
K
position
270
score
100.0
distance
22.19482
seq distance
10
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473079.
original residue
Q
variation residue
K
position
270
score
100.0
distance
22.19482
seq distance
10
chain
B
In LQT3; dbSNP:rs137854600.
original residue
R
variation residue
L
position
1623
score
100.0
distance
22.301327
seq distance
1297
chain
B
In LQT3 and BRGDA1; dbSNP:rs137854600.
original residue
R
variation residue
Q
position
1623
score
100.0
distance
22.301327
seq distance
1297
chain
B
In LQT3; dbSNP:rs137854600.
original residue
R
variation residue
L
position
1623
score
100.0
distance
22.301327
seq distance
1297
chain
B
In LQT3 and BRGDA1; dbSNP:rs137854600.
original residue
R
variation residue
Q
position
1623
score
100.0
distance
22.301327
seq distance
1297
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473298.
original residue
G
variation residue
S
position
1712
score
100.0
distance
22.874136
seq distance
1386
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473298.
original residue
G
variation residue
S
position
1712
score
100.0
distance
22.874136
seq distance
1386
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473174.
original residue
E
variation residue
K
position
901
score
100.0
distance
23.239117
seq distance
575
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473174.
original residue
E
variation residue
K
position
901
score
100.0
distance
23.239117
seq distance
575
chain
B
In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation; dbSNP:rs199473627.
original residue
F
variation residue
S
position
1705
score
100.0
distance
23.395363
seq distance
1379
chain
B
In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation; dbSNP:rs199473627.
original residue
F
variation residue
S
position
1705
score
100.0
distance
23.395363
seq distance
1379
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473294.
original residue
A
variation residue
T
position
1680
score
100.0
distance
23.454552
seq distance
1354
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473294.
original residue
A
variation residue
T
position
1680
score
100.0
distance
23.454552
seq distance
1354
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473205.
original residue
Y
variation residue
H
position
1228
score
100.0
distance
23.618204
seq distance
902
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473205.
original residue
Y
variation residue
H
position
1228
score
100.0
distance
23.618204
seq distance
902
chain
B
In BRGDA1 and LQT3; express no current; dbSNP:rs199473097.
original residue
R
variation residue
C
position
367
score
100.0
distance
24.476326
seq distance
41
chain
B
In BRGDA1; express no current; dbSNP:rs28937318.
original residue
R
variation residue
H
position
367
score
100.0
distance
24.476326
seq distance
41
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs28937318.
original residue
R
variation residue
L
position
367
score
100.0
distance
24.476326
seq distance
41
chain
B
In BRGDA1 and LQT3; express no current; dbSNP:rs199473097.
original residue
R
variation residue
C
position
367
score
100.0
distance
24.476326
seq distance
41
chain
B
In BRGDA1; express no current; dbSNP:rs28937318.
original residue
R
variation residue
H
position
367
score
100.0
distance
24.476326
seq distance
41
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs28937318.
original residue
R
variation residue
L
position
367
score
100.0
distance
24.476326
seq distance
41
chain
B
In BRGDA1; strong decrease of current density; does not affect ion selectivity properties; dbSNP:rs199473628.
original residue
D
variation residue
G
position
1714
score
100.0
distance
25.249023
seq distance
1388
chain
B
In BRGDA1; strong decrease of current density; does not affect ion selectivity properties; dbSNP:rs199473628.
original residue
D
variation residue
G
position
1714
score
100.0
distance
25.249023
seq distance
1388
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473271.
original residue
E
variation residue
K
position
1548
score
100.0
distance
25.78972
seq distance
1222
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473271.
original residue
E
variation residue
K
position
1548
score
100.0
distance
25.78972
seq distance
1222
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473302.
original residue
C
variation residue
R
position
1728
score
100.0
distance
25.821497
seq distance
1402
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs193922726.
original residue
C
variation residue
W
position
1728
score
100.0
distance
25.821497
seq distance
1402
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473302.
original residue
C
variation residue
R
position
1728
score
100.0
distance
25.821497
seq distance
1402
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs193922726.
original residue
C
variation residue
W
position
1728
score
100.0
distance
25.821497
seq distance
1402
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473103.
original residue
V
variation residue
A
position
396
score
100.0
distance
25.97879
seq distance
70
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473104.
original residue
V
variation residue
L
position
396
score
100.0
distance
25.97879
seq distance
70
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473103.
original residue
V
variation residue
A
position
396
score
100.0
distance
25.97879
seq distance
70
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473104.
original residue
V
variation residue
L
position
396
score
100.0
distance
25.97879
seq distance
70
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473105.
original residue
I
variation residue
T
position
397
score
100.0
distance
26.325132
seq distance
71
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473105.
original residue
I
variation residue
T
position
397
score
100.0
distance
26.325132
seq distance
71
chain
B
In LQT3; dbSNP:rs199473598.
original residue
E
variation residue
K
position
1231
score
100.0
distance
26.74909
seq distance
905
chain
B
In LQT3; dbSNP:rs199473598.
original residue
E
variation residue
K
position
1231
score
100.0
distance
26.74909
seq distance
905
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473626.
original residue
S
variation residue
Y
position
1672
score
100.0
distance
26.894915
seq distance
1346
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473626.
original residue
S
variation residue
Y
position
1672
score
100.0
distance
26.894915
seq distance
1346
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
H
position
1626
score
100.0
distance
26.948605
seq distance
1300
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
P
position
1626
score
100.0
distance
26.948605
seq distance
1300
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
H
position
1626
score
100.0
distance
26.948605
seq distance
1300
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
P
position
1626
score
100.0
distance
26.948605
seq distance
1300
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473611.
original residue
G
variation residue
R
position
1420
score
100.0
distance
27.074898
seq distance
1094
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473611.
original residue
G
variation residue
R
position
1420
score
100.0
distance
27.074898
seq distance
1094
chain
B
In dbSNP:rs45553235.
original residue
Q
variation residue
K
position
1613
score
50.0
distance
27.277678
seq distance
1287
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473281.
original residue
Q
variation residue
L
position
1613
score
100.0
distance
27.277678
seq distance
1287
chain
B
In dbSNP:rs45553235.
original residue
Q
variation residue
K
position
1613
score
50.0
distance
27.277678
seq distance
1287
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473281.
original residue
Q
variation residue
L
position
1613
score
100.0
distance
27.277678
seq distance
1287
chain
B
In BRGDA1; dbSNP:rs199473098.
original residue
M
variation residue
K
position
369
score
100.0
distance
27.370256
seq distance
43
chain
B
In BRGDA1; dbSNP:rs199473098.
original residue
M
variation residue
K
position
369
score
100.0
distance
27.370256
seq distance
43
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
M
position
1709
score
100.0
distance
27.459974
seq distance
1383
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
R
position
1709
score
100.0
distance
27.459974
seq distance
1383
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
M
position
1709
score
100.0
distance
27.459974
seq distance
1383
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
R
position
1709
score
100.0
distance
27.459974
seq distance
1383
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473242.
original residue
K
variation residue
E
position
1419
score
100.0
distance
27.655905
seq distance
1093
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473242.
original residue
K
variation residue
E
position
1419
score
100.0
distance
27.655905
seq distance
1093
chain
B
In VF1; dbSNP:rs137854604.
original residue
S
variation residue
L
position
1710
score
100.0
distance
27.692595
seq distance
1384
chain
B
In VF1; dbSNP:rs137854604.
original residue
S
variation residue
L
position
1710
score
100.0
distance
27.692595
seq distance
1384
chain
B
In BRGDA1; dbSNP:rs199473629.
original residue
G
variation residue
E
position
1743
score
100.0
distance
27.887316
seq distance
1417
chain
B
In BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells; dbSNP:rs199473305.
original residue
G
variation residue
R
position
1743
score
100.0
distance
27.887316
seq distance
1417
chain
B
In BRGDA1; dbSNP:rs199473629.
original residue
G
variation residue
E
position
1743
score
100.0
distance
27.887316
seq distance
1417
chain
B
In BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells; dbSNP:rs199473305.
original residue
G
variation residue
R
position
1743
score
100.0
distance
27.887316
seq distance
1417
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473206.
original residue
R
variation residue
Q
position
1232
score
100.0
distance
28.002253
seq distance
906
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473207.
original residue
R
variation residue
W
position
1232
score
100.0
distance
28.002253
seq distance
906
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473206.
original residue
R
variation residue
Q
position
1232
score
100.0
distance
28.002253
seq distance
906
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473207.
original residue
R
variation residue
W
position
1232
score
100.0
distance
28.002253
seq distance
906
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473299.
original residue
N
variation residue
D
position
1722
score
100.0
distance
28.415249
seq distance
1396
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473299.
original residue
N
variation residue
D
position
1722
score
100.0
distance
28.415249
seq distance
1396
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473099.
original residue
T
variation residue
M
position
370
score
100.0
distance
28.43889
seq distance
44
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473099.
original residue
T
variation residue
M
position
370
score
100.0
distance
28.43889
seq distance
44
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473084.
original residue
G
variation residue
S
position
289
score
100.0
distance
28.47366
seq distance
9
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473084.
original residue
G
variation residue
S
position
289
score
100.0
distance
28.47366
seq distance
9
chain
B
4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
original residue
K
variation residue
A
position
1614
score
100.0
distance
28.586592
seq distance
1288
chain
B
4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
original residue
K
variation residue
A
position
1614
score
100.0
distance
28.586592
seq distance
1288
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473204.
original residue
E
variation residue
K
position
1225
score
100.0
distance
28.625362
seq distance
899
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473204.
original residue
E
variation residue
K
position
1225
score
100.0
distance
28.625362
seq distance
899
chain
B
In dbSNP:rs199473563.
original residue
N
variation residue
S
position
291
score
100.0
distance
28.949638
seq distance
11
chain
B
In dbSNP:rs199473563.
original residue
N
variation residue
S
position
291
score
100.0
distance
28.949638
seq distance
11
chain
B
In BRGDA1; dbSNP:rs199473304.
original residue
G
variation residue
R
position
1740
score
100.0
distance
29.158136
seq distance
1414
chain
B
In BRGDA1; dbSNP:rs199473304.
original residue
G
variation residue
R
position
1740
score
100.0
distance
29.158136
seq distance
1414
chain
B
In BRGDA1; dbSNP:rs199473168.
original residue
R
variation residue
C
position
878
score
100.0
distance
29.88833
seq distance
552
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473587.
original residue
R
variation residue
H
position
878
score
100.0
distance
29.88833
seq distance
552
chain
B
In BRGDA1; dbSNP:rs199473168.
original residue
R
variation residue
C
position
878
score
100.0
distance
29.88833
seq distance
552
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473587.
original residue
R
variation residue
H
position
878
score
100.0
distance
29.88833
seq distance
552
chain
B
In LQT3; dbSNP:rs199473622.
original residue
S
variation residue
W
position
1609
score
100.0
distance
30.05936
seq distance
1283
chain
B
In LQT3; dbSNP:rs199473622.
original residue
S
variation residue
W
position
1609
score
100.0
distance
30.05936
seq distance
1283
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; changed voltage dependence for activation and inactivation.
original residue
G
variation residue
D
position
1748
score
100.0
distance
30.466068
seq distance
1422
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; changed voltage dependence for activation and inactivation.
original residue
G
variation residue
D
position
1748
score
100.0
distance
30.466068
seq distance
1422
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473303.
original residue
R
variation residue
W
position
1739
score
100.0
distance
30.735027
seq distance
1413
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473303.
original residue
R
variation residue
W
position
1739
score
100.0
distance
30.735027
seq distance
1413
chain
B
In BRGDA1; dbSNP:rs199473175.
original residue
S
variation residue
L
position
910
score
100.0
distance
30.872282
seq distance
584
chain
B
In BRGDA1; dbSNP:rs199473175.
original residue
S
variation residue
L
position
910
score
100.0
distance
30.872282
seq distance
584
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473300.
original residue
T
variation residue
N
position
1723
score
100.0
distance
30.995573
seq distance
1397
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473300.
original residue
T
variation residue
N
position
1723
score
100.0
distance
30.995573
seq distance
1397
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473588.
original residue
C
variation residue
R
position
915
score
100.0
distance
31.077032
seq distance
589
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473588.
original residue
C
variation residue
R
position
915
score
100.0
distance
31.077032
seq distance
589
chain
B
Phosphoserine
position
1744
score
50.0
distance
31.396786
seq distance
1418
chain
B
Phosphoserine
position
1744
score
50.0
distance
31.396786
seq distance
1418
chain
B
Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
original residue
D
variation residue
A
position
1610
score
100.0
distance
31.722664
seq distance
1284
chain
B
High decrease in affinity to the sea anemone toxin anthopleurin-B.
original residue
D
variation residue
R
position
1610
score
100.0
distance
31.722664
seq distance
1284
chain
B
Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
original residue
D
variation residue
A
position
1610
score
100.0
distance
31.722664
seq distance
1284
chain
B
High decrease in affinity to the sea anemone toxin anthopleurin-B.
original residue
D
variation residue
R
position
1610
score
100.0
distance
31.722664
seq distance
1284
chain
B
In LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation; dbSNP:rs794728898.
original residue
H
variation residue
R
position
880
score
50.0
distance
31.877497
seq distance
554
chain
B
In LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation; dbSNP:rs794728898.
original residue
H
variation residue
R
position
880
score
50.0
distance
31.877497
seq distance
554
chain
B
In BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation; dbSNP:rs199473180.
original residue
R
variation residue
C
position
1629
score
59.09090909090909
distance
31.959492
seq distance
1303
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
H
position
1629
score
59.09090909090909
distance
31.959492
seq distance
1303
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
L
position
1629
score
59.09090909090909
distance
31.959492
seq distance
1303
chain
B
In BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation; dbSNP:rs199473623.
original residue
R
variation residue
Q
position
1629
score
100.0
distance
31.959492
seq distance
1303
chain
B
In BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation; dbSNP:rs199473180.
original residue
R
variation residue
C
position
1629
score
59.09090909090909
distance
31.959492
seq distance
1303
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
H
position
1629
score
59.09090909090909
distance
31.959492
seq distance
1303
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
L
position
1629
score
59.09090909090909
distance
31.959492
seq distance
1303
chain
B
In BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation; dbSNP:rs199473623.
original residue
R
variation residue
Q
position
1629
score
100.0
distance
31.959492
seq distance
1303
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473619.
original residue
L
variation residue
F
position
1560
score
100.0
distance
32.22413
seq distance
1234
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473619.
original residue
L
variation residue
F
position
1560
score
100.0
distance
32.22413
seq distance
1234
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473171.
original residue
R
variation residue
C
position
893
score
100.0
distance
32.538803
seq distance
567
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473172.
original residue
R
variation residue
H
position
893
score
100.0
distance
32.538803
seq distance
567
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473171.
original residue
R
variation residue
C
position
893
score
100.0
distance
32.538803
seq distance
567
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473172.
original residue
R
variation residue
H
position
893
score
100.0
distance
32.538803
seq distance
567
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473244.
original residue
A
variation residue
S
position
1427
score
100.0
distance
32.929943
seq distance
1101
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473244.
original residue
A
variation residue
S
position
1427
score
100.0
distance
32.929943
seq distance
1101
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473293.
original residue
V
variation residue
I
position
1667
score
100.0
distance
33.12633
seq distance
1341
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473293.
original residue
V
variation residue
I
position
1667
score
100.0
distance
33.12633
seq distance
1341
chain
B
In BRGDA1; dbSNP:rs199473208.
original residue
K
variation residue
N
position
1236
score
100.0
distance
33.15677
seq distance
910
chain
B
In BRGDA1; dbSNP:rs199473208.
original residue
K
variation residue
N
position
1236
score
100.0
distance
33.15677
seq distance
910
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473167.
original residue
E
variation residue
Q
position
867
score
100.0
distance
33.382317
seq distance
541
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473167.
original residue
E
variation residue
Q
position
867
score
100.0
distance
33.382317
seq distance
541
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473237.
original residue
C
variation residue
Y
position
1363
score
100.0
distance
33.542088
seq distance
1037
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473237.
original residue
C
variation residue
Y
position
1363
score
100.0
distance
33.542088
seq distance
1037
chain
B
In BRGDA1; dbSNP:rs199473173.
original residue
C
variation residue
S
position
896
score
100.0
distance
33.618484
seq distance
570
chain
B
In BRGDA1; dbSNP:rs199473173.
original residue
C
variation residue
S
position
896
score
100.0
distance
33.618484
seq distance
570
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473176.
original residue
L
variation residue
R
position
917
score
100.0
distance
33.915443
seq distance
591
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473176.
original residue
L
variation residue
R
position
917
score
100.0
distance
33.915443
seq distance
591
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473292.
original residue
G
variation residue
R
position
1661
score
100.0
distance
34.35999
seq distance
1335
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473292.
original residue
G
variation residue
R
position
1661
score
100.0
distance
34.35999
seq distance
1335
chain
B
In LQT3; dbSNP:rs199473107.
original residue
L
variation residue
Q
position
404
score
100.0
distance
34.74219
seq distance
78
chain
B
In LQT3; dbSNP:rs199473107.
original residue
L
variation residue
Q
position
404
score
100.0
distance
34.74219
seq distance
78
chain
B
In LQT3; dbSNP:rs199473631.
original residue
V
variation residue
M
position
1763
score
100.0
distance
35.09499
seq distance
1437
chain
B
In LQT3; dbSNP:rs199473631.
original residue
V
variation residue
M
position
1763
score
100.0
distance
35.09499
seq distance
1437
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473280.
original residue
V
variation residue
M
position
1604
score
100.0
distance
35.422714
seq distance
1278
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473280.
original residue
V
variation residue
M
position
1604
score
100.0
distance
35.422714
seq distance
1278
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473597.
original residue
S
variation residue
N
position
1219
score
100.0
distance
35.526047
seq distance
893
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473597.
original residue
S
variation residue
N
position
1219
score
100.0
distance
35.526047
seq distance
893
chain
B
In LQT3; dbSNP:rs199473603.
original residue
T
variation residue
M
position
1304
score
100.0
distance
35.786156
seq distance
978
chain
B
In LQT3; dbSNP:rs199473603.
original residue
T
variation residue
M
position
1304
score
100.0
distance
35.786156
seq distance
978
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473210.
original residue
L
variation residue
P
position
1239
score
100.0
distance
36.021305
seq distance
913
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473210.
original residue
L
variation residue
P
position
1239
score
100.0
distance
36.021305
seq distance
913
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473236.
original residue
F
variation residue
C
position
1360
score
100.0
distance
36.03274
seq distance
1034
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473236.
original residue
F
variation residue
C
position
1360
score
100.0
distance
36.03274
seq distance
1034
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473248.
original residue
P
variation residue
L
position
1438
score
100.0
distance
36.172783
seq distance
1112
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473248.
original residue
P
variation residue
L
position
1438
score
100.0
distance
36.172783
seq distance
1112
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473612.
original residue
A
variation residue
V
position
1428
score
100.0
distance
36.214596
seq distance
1102
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473612.
original residue
A
variation residue
V
position
1428
score
100.0
distance
36.214596
seq distance
1102
chain
B
In BRGDA1; dbSNP:rs199473170.
original residue
F
variation residue
I
position
892
score
100.0
distance
36.263836
seq distance
566
chain
B
In BRGDA1; dbSNP:rs199473170.
original residue
F
variation residue
I
position
892
score
100.0
distance
36.263836
seq distance
566
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473169.
original residue
H
variation residue
P
position
886
score
100.0
distance
36.738018
seq distance
560
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473169.
original residue
H
variation residue
P
position
886
score
100.0
distance
36.738018
seq distance
560
chain
B
In dbSNP:rs199473177.
original residue
V
variation residue
I
position
924
score
100.0
distance
37.01226
seq distance
598
chain
B
In dbSNP:rs199473177.
original residue
V
variation residue
I
position
924
score
100.0
distance
37.01226
seq distance
598
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473241.
original residue
L
variation residue
F
position
1412
score
100.0
distance
37.021538
seq distance
1086
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473241.
original residue
L
variation residue
F
position
1412
score
100.0
distance
37.021538
seq distance
1086
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473249.
original residue
E
variation residue
Q
position
1441
score
100.0
distance
37.10577
seq distance
1115
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473249.
original residue
E
variation residue
Q
position
1441
score
100.0
distance
37.10577
seq distance
1115
chain
B
In LQT3; dbSNP:rs199473108.
original residue
N
variation residue
K
position
406
score
100.0
distance
37.301376
seq distance
80
chain
B
In BRGDA1; dbSNP:rs199473568.
original residue
N
variation residue
S
position
406
score
100.0
distance
37.301376
seq distance
80
chain
B
In LQT3; dbSNP:rs199473108.
original residue
N
variation residue
K
position
406
score
100.0
distance
37.301376
seq distance
80
chain
B
In BRGDA1; dbSNP:rs199473568.
original residue
N
variation residue
S
position
406
score
100.0
distance
37.301376
seq distance
80
chain
B
In BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane; dbSNP:rs199473625.
original residue
I
variation residue
V
position
1660
score
100.0
distance
37.735966
seq distance
1334
chain
B
In BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane; dbSNP:rs199473625.
original residue
I
variation residue
V
position
1660
score
100.0
distance
37.735966
seq distance
1334
chain
B
Associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031.
original residue
L
variation residue
F
position
1308
score
100.0
distance
37.78793
seq distance
982
chain
B
Associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031.
original residue
L
variation residue
F
position
1308
score
100.0
distance
37.78793
seq distance
982
chain
B
May confer susceptibility to acquired arrhythmia; dbSNP:rs7626962.
original residue
S
variation residue
Y
position
1218
score
50.0
distance
37.912724
seq distance
892
chain
B
May confer susceptibility to acquired arrhythmia; dbSNP:rs7626962.
original residue
S
variation residue
Y
position
1218
score
50.0
distance
37.912724
seq distance
892
chain
B
In LQT3; affects protein trafficking; dbSNP:rs199473310.
original residue
M
variation residue
L
position
1766
score
100.0
distance
38.140976
seq distance
1440
chain
B
In LQT3; affects protein trafficking; dbSNP:rs199473310.
original residue
M
variation residue
L
position
1766
score
100.0
distance
38.140976
seq distance
1440
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473589.
original residue
N
variation residue
S
position
927
score
100.0
distance
38.15113
seq distance
601
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473589.
original residue
N
variation residue
S
position
927
score
100.0
distance
38.15113
seq distance
601
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473307.
original residue
L
variation residue
F
position
1761
score
100.0
distance
38.257294
seq distance
1435
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473308.
original residue
L
variation residue
H
position
1761
score
100.0
distance
38.257294
seq distance
1435
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473307.
original residue
L
variation residue
F
position
1761
score
100.0
distance
38.257294
seq distance
1435
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473308.
original residue
L
variation residue
H
position
1761
score
100.0
distance
38.257294
seq distance
1435
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473309.
original residue
V
variation residue
F
position
1764
score
100.0
distance
38.568333
seq distance
1438
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473309.
original residue
V
variation residue
F
position
1764
score
100.0
distance
38.568333
seq distance
1438
chain
B
In dbSNP:rs199473211.
original residue
E
variation residue
Q
position
1240
score
100.0
distance
38.72868
seq distance
914
chain
B
In dbSNP:rs199473211.
original residue
E
variation residue
Q
position
1240
score
100.0
distance
38.72868
seq distance
914
chain
B
In SSS1 and BRGDA1; dbSNP:rs137854612.
original residue
G
variation residue
R
position
1408
score
100.0
distance
39.30097
seq distance
1082
chain
B
In SSS1 and BRGDA1; dbSNP:rs137854612.
original residue
G
variation residue
R
position
1408
score
100.0
distance
39.30097
seq distance
1082
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473610.
original residue
Y
variation residue
C
position
1409
score
100.0
distance
39.348343
seq distance
1083
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473610.
original residue
Y
variation residue
C
position
1409
score
100.0
distance
39.348343
seq distance
1083
chain
B
In LQT3; dbSNP:rs199473253.
original residue
S
variation residue
Y
position
1458
score
100.0
distance
39.57822
seq distance
1132
chain
B
In LQT3; dbSNP:rs199473253.
original residue
S
variation residue
Y
position
1458
score
100.0
distance
39.57822
seq distance
1132
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473235.
original residue
K
variation residue
N
position
1359
score
100.0
distance
39.673046
seq distance
1033
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473235.
original residue
K
variation residue
N
position
1359
score
100.0
distance
39.673046
seq distance
1033
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473632.
original residue
Y
variation residue
C
position
1767
score
100.0
distance
39.702393
seq distance
1441
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473632.
original residue
Y
variation residue
C
position
1767
score
100.0
distance
39.702393
seq distance
1441
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473252.
original residue
V
variation residue
D
position
1451
score
100.0
distance
39.89646
seq distance
1125
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473252.
original residue
V
variation residue
D
position
1451
score
100.0
distance
39.89646
seq distance
1125
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473219.
original residue
L
variation residue
P
position
1311
score
100.0
distance
39.964615
seq distance
985
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473219.
original residue
L
variation residue
P
position
1311
score
100.0
distance
39.964615
seq distance
985
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473599.
original residue
D
variation residue
N
position
1243
score
100.0
distance
40.19968
seq distance
917
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473599.
original residue
D
variation residue
N
position
1243
score
100.0
distance
40.19968
seq distance
917
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473290.
original residue
L
variation residue
F
position
1650
score
100.0
distance
40.265488
seq distance
1324
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473290.
original residue
L
variation residue
F
position
1650
score
100.0
distance
40.265488
seq distance
1324
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473109.
original residue
L
variation residue
V
position
409
score
100.0
distance
41.086
seq distance
83
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473109.
original residue
L
variation residue
V
position
409
score
100.0
distance
41.086
seq distance
83
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473178.
original residue
L
variation residue
P
position
928
score
100.0
distance
41.14951
seq distance
602
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473178.
original residue
L
variation residue
P
position
928
score
100.0
distance
41.14951
seq distance
602
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473234.
original residue
G
variation residue
W
position
1358
score
100.0
distance
41.167255
seq distance
1032
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473234.
original residue
G
variation residue
W
position
1358
score
100.0
distance
41.167255
seq distance
1032
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473045.
original residue
R
variation residue
H
position
1432
score
54.54545454545454
distance
41.360985
seq distance
1106
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473245.
original residue
R
variation residue
G
position
1432
score
100.0
distance
41.360985
seq distance
1106
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473246.
original residue
R
variation residue
S
position
1432
score
100.0
distance
41.360985
seq distance
1106
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473045.
original residue
R
variation residue
H
position
1432
score
54.54545454545454
distance
41.360985
seq distance
1106
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473245.
original residue
R
variation residue
G
position
1432
score
100.0
distance
41.360985
seq distance
1106
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473246.
original residue
R
variation residue
S
position
1432
score
100.0
distance
41.360985
seq distance
1106
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473609.
original residue
G
variation residue
E
position
1406
score
100.0
distance
41.669132
seq distance
1080
chain
B
In BRGDA1; dbSNP:rs199473240.
original residue
G
variation residue
R
position
1406
score
100.0
distance
41.669132
seq distance
1080
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473609.
original residue
G
variation residue
E
position
1406
score
100.0
distance
41.669132
seq distance
1080
chain
B
In BRGDA1; dbSNP:rs199473240.
original residue
G
variation residue
R
position
1406
score
100.0
distance
41.669132
seq distance
1080
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473250.
original residue
I
variation residue
L
position
1448
score
100.0
distance
41.688766
seq distance
1122
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473251.
original residue
I
variation residue
T
position
1448
score
100.0
distance
41.688766
seq distance
1122
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473250.
original residue
I
variation residue
L
position
1448
score
100.0
distance
41.688766
seq distance
1122
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473251.
original residue
I
variation residue
T
position
1448
score
100.0
distance
41.688766
seq distance
1122
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473613.
original residue
Y
variation residue
C
position
1449
score
100.0
distance
41.902348
seq distance
1123
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473613.
original residue
Y
variation residue
C
position
1449
score
100.0
distance
41.902348
seq distance
1123
chain
B
In SSS1; dbSNP:rs28937319.
original residue
P
variation residue
L
position
1298
score
100.0
distance
42.299683
seq distance
972
chain
B
In SSS1; dbSNP:rs28937319.
original residue
P
variation residue
L
position
1298
score
100.0
distance
42.299683
seq distance
972
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473277.
original residue
F
variation residue
S
position
1594
score
100.0
distance
42.40336
seq distance
1268
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473277.
original residue
F
variation residue
S
position
1594
score
100.0
distance
42.40336
seq distance
1268
chain
B
In BRGDA1; asymptomatic patient; associated with R-1527; dbSNP:rs199473273.
original residue
A
variation residue
P
position
1569
score
100.0
distance
42.795376
seq distance
1243
chain
B
In BRGDA1; asymptomatic patient; associated with R-1527; dbSNP:rs199473273.
original residue
A
variation residue
P
position
1569
score
100.0
distance
42.795376
seq distance
1243
chain
B
In LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation; dbSNP:rs199473218.
original residue
E
variation residue
K
position
1295
score
100.0
distance
42.825638
seq distance
969
chain
B
In LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation; dbSNP:rs199473218.
original residue
E
variation residue
K
position
1295
score
100.0
distance
42.825638
seq distance
969
chain
B
In PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3; dbSNP:rs137854607.
original residue
D
variation residue
N
position
1595
score
100.0
distance
43.082317
seq distance
1269
chain
B
In PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3; dbSNP:rs137854607.
original residue
D
variation residue
N
position
1595
score
100.0
distance
43.082317
seq distance
1269
chain
B
In LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve; dbSNP:rs199473311.
original residue
I
variation residue
V
position
1768
score
100.0
distance
43.1785
seq distance
1442
chain
B
In LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve; dbSNP:rs199473311.
original residue
I
variation residue
V
position
1768
score
100.0
distance
43.1785
seq distance
1442
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473221.
original residue
V
variation residue
G
position
1323
score
100.0
distance
43.24036
seq distance
997
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473221.
original residue
V
variation residue
G
position
1323
score
100.0
distance
43.24036
seq distance
997
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473274.
original residue
F
variation residue
C
position
1571
score
100.0
distance
43.48005
seq distance
1245
chain
B
In BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest; dbSNP:rs1369632373.
original residue
F
variation residue
L
position
1571
score
100.0
distance
43.48005
seq distance
1245
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473274.
original residue
F
variation residue
C
position
1571
score
100.0
distance
43.48005
seq distance
1245
chain
B
In BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest; dbSNP:rs1369632373.
original residue
F
variation residue
L
position
1571
score
100.0
distance
43.48005
seq distance
1245
chain
B
In BRGDA1; dbSNP:rs199473220.
original residue
G
variation residue
V
position
1319
score
100.0
distance
43.638252
seq distance
993
chain
B
In BRGDA1; dbSNP:rs199473220.
original residue
G
variation residue
V
position
1319
score
100.0
distance
43.638252
seq distance
993
chain
B
In LQT3; unknown pathological significance; dbSNP:rs794728920.
original residue
variation residue
position
1212
score
100.0
distance
43.641117
seq distance
886
chain
B
In LQT3; unknown pathological significance; dbSNP:rs794728920.
original residue
variation residue
position
1212
score
100.0
distance
43.641117
seq distance
886
chain
B
In BRGDA1; dbSNP:rs199473289.
original residue
A
variation residue
V
position
1649
score
100.0
distance
43.684612
seq distance
1323
chain
B
In LQT3; dbSNP:rs199473330.
original residue
A
variation residue
S
position
1649
score
54.54545454545454
distance
43.684612
seq distance
1323
chain
B
In BRGDA1; dbSNP:rs199473289.
original residue
A
variation residue
V
position
1649
score
100.0
distance
43.684612
seq distance
1323
chain
B
In LQT3; dbSNP:rs199473330.
original residue
A
variation residue
S
position
1649
score
54.54545454545454
distance
43.684612
seq distance
1323
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473278.
original residue
F
variation residue
I
position
1596
score
100.0
distance
43.773052
seq distance
1270
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473278.
original residue
F
variation residue
I
position
1596
score
100.0
distance
43.773052
seq distance
1270
chain
B
In BRGDA1; dbSNP:rs199473239.
original residue
V
variation residue
L
position
1405
score
100.0
distance
43.826626
seq distance
1079
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473239.
original residue
V
variation residue
M
position
1405
score
100.0
distance
43.826626
seq distance
1079
chain
B
In BRGDA1; dbSNP:rs199473239.
original residue
V
variation residue
L
position
1405
score
100.0
distance
43.826626
seq distance
1079
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473239.
original residue
V
variation residue
M
position
1405
score
100.0
distance
43.826626
seq distance
1079
chain
B
In BRGDA1; dbSNP:rs199473608.
original residue
S
variation residue
I
position
1382
score
100.0
distance
43.8274
seq distance
1056
chain
B
In BRGDA1; dbSNP:rs199473608.
original residue
S
variation residue
I
position
1382
score
100.0
distance
43.8274
seq distance
1056
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473247.
original residue
G
variation residue
V
position
1433
score
100.0
distance
43.8411
seq distance
1107
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473247.
original residue
G
variation residue
V
position
1433
score
100.0
distance
43.8411
seq distance
1107
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473233.
original residue
V
variation residue
M
position
1353
score
100.0
distance
43.977108
seq distance
1027
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473233.
original residue
V
variation residue
M
position
1353
score
100.0
distance
43.977108
seq distance
1027
chain
B
In LQT3; dbSNP:rs199473287.
original residue
R
variation residue
C
position
1644
score
100.0
distance
44.113235
seq distance
1318
chain
B
In LQT3; dbSNP:rs28937316.
original residue
R
variation residue
H
position
1644
score
100.0
distance
44.113235
seq distance
1318
chain
B
In LQT3; dbSNP:rs199473287.
original residue
R
variation residue
C
position
1644
score
100.0
distance
44.113235
seq distance
1318
chain
B
In LQT3; dbSNP:rs28937316.
original residue
R
variation residue
H
position
1644
score
100.0
distance
44.113235
seq distance
1318
chain
B
In LQT3; dbSNP:rs199473291.
original residue
M
variation residue
R
position
1652
score
100.0
distance
44.131527
seq distance
1326
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473291.
original residue
M
variation residue
T
position
1652
score
100.0
distance
44.131527
seq distance
1326
chain
B
In LQT3; dbSNP:rs199473291.
original residue
M
variation residue
R
position
1652
score
100.0
distance
44.131527
seq distance
1326
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473291.
original residue
M
variation residue
T
position
1652
score
100.0
distance
44.131527
seq distance
1326
chain
B
In BRGDA1; dbSNP:rs199473586.
original residue
F
variation residue
L
position
851
score
100.0
distance
44.325603
seq distance
525
chain
B
In BRGDA1; dbSNP:rs199473586.
original residue
F
variation residue
L
position
851
score
100.0
distance
44.325603
seq distance
525
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473614.
original residue
N
variation residue
Y
position
1463
score
100.0
distance
44.635357
seq distance
1137
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473614.
original residue
N
variation residue
Y
position
1463
score
100.0
distance
44.635357
seq distance
1137
chain
B
In LQT3; dbSNP:rs72549410.
original residue
V
variation residue
M
position
411
score
100.0
distance
44.91172
seq distance
85
chain
B
In LQT3; dbSNP:rs72549410.
original residue
V
variation residue
M
position
411
score
100.0
distance
44.91172
seq distance
85
chain
B
In LQT3; dbSNP:rs199473615.
original residue
F
variation residue
L
position
1486
score
100.0
distance
44.940052
seq distance
1160
chain
B
In LQT3; dbSNP:rs199473615.
original residue
F
variation residue
L
position
1486
score
100.0
distance
44.940052
seq distance
1160
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473227.
original residue
L
variation residue
V
position
1338
score
100.0
distance
45.18392
seq distance
1012
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473227.
original residue
L
variation residue
V
position
1338
score
100.0
distance
45.18392
seq distance
1012
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473624.
original residue
G
variation residue
E
position
1642
score
100.0
distance
45.38722
seq distance
1316
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473624.
original residue
G
variation residue
E
position
1642
score
100.0
distance
45.38722
seq distance
1316
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473078.
original residue
V
variation residue
L
position
247
score
100.0
distance
45.43781
seq distance
33
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473078.
original residue
V
variation residue
L
position
247
score
100.0
distance
45.43781
seq distance
33
chain
B
In SSS1 and BRGDA1; dbSNP:rs45620037.
original residue
T
variation residue
I
position
220
score
100.0
distance
45.85888
seq distance
60
chain
B
In SSS1 and BRGDA1; dbSNP:rs45620037.
original residue
T
variation residue
I
position
220
score
100.0
distance
45.85888
seq distance
60
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473276.
original residue
I
variation residue
M
position
1593
score
100.0
distance
45.88676
seq distance
1267
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473276.
original residue
I
variation residue
M
position
1593
score
100.0
distance
45.88676
seq distance
1267
chain
B
Rare variant found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41276525.
original residue
S
variation residue
L
position
216
score
100.0
distance
45.926918
seq distance
64
chain
B
Rare variant found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41276525.
original residue
S
variation residue
L
position
216
score
100.0
distance
45.926918
seq distance
64
chain
B
In LQT3; dbSNP:rs199473288.
original residue
T
variation residue
M
position
1645
score
100.0
distance
45.997345
seq distance
1319
chain
B
In LQT3; dbSNP:rs199473288.
original residue
T
variation residue
M
position
1645
score
100.0
distance
45.997345
seq distance
1319
chain
B
In dbSNP:rs41313697.
original residue
L
variation residue
V
position
1286
score
54.54545454545454
distance
46.081867
seq distance
960
chain
B
In dbSNP:rs41313697.
original residue
L
variation residue
V
position
1286
score
54.54545454545454
distance
46.081867
seq distance
960
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473226.
original residue
I
variation residue
V
position
1334
score
100.0
distance
46.218754
seq distance
1008
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473226.
original residue
I
variation residue
V
position
1334
score
100.0
distance
46.218754
seq distance
1008
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473232.
original residue
M
variation residue
R
position
1351
score
100.0
distance
46.271667
seq distance
1025
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473232.
original residue
M
variation residue
R
position
1351
score
100.0
distance
46.271667
seq distance
1025
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473230.
original residue
L
variation residue
I
position
1346
score
100.0
distance
46.46108
seq distance
1020
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473231.
original residue
L
variation residue
P
position
1346
score
100.0
distance
46.46108
seq distance
1020
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473230.
original residue
L
variation residue
I
position
1346
score
100.0
distance
46.46108
seq distance
1020
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473231.
original residue
L
variation residue
P
position
1346
score
100.0
distance
46.46108
seq distance
1020
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473179.
original residue
L
variation residue
P
position
935
score
100.0
distance
46.550426
seq distance
609
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473179.
original residue
L
variation residue
P
position
935
score
100.0
distance
46.550426
seq distance
609
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473258.
original residue
M
variation residue
L
position
1487
score
100.0
distance
46.741776
seq distance
1161
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473258.
original residue
M
variation residue
L
position
1487
score
100.0
distance
46.741776
seq distance
1161
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473222.
original residue
A
variation residue
S
position
1326
score
100.0
distance
46.838753
seq distance
1000
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473222.
original residue
A
variation residue
S
position
1326
score
100.0
distance
46.838753
seq distance
1000
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473569.
original residue
A
variation residue
E
position
413
score
100.0
distance
46.88426
seq distance
87
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473110.
original residue
A
variation residue
T
position
413
score
100.0
distance
46.88426
seq distance
87
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473569.
original residue
A
variation residue
E
position
413
score
100.0
distance
46.88426
seq distance
87
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473110.
original residue
A
variation residue
T
position
413
score
100.0
distance
46.88426
seq distance
87
chain
B
In CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials; dbSNP:rs137854618.
original residue
D
variation residue
N
position
1275
score
100.0
distance
47.446995
seq distance
949
chain
B
In CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials; dbSNP:rs137854618.
original residue
D
variation residue
N
position
1275
score
100.0
distance
47.446995
seq distance
949
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473217.
original residue
A
variation residue
G
position
1288
score
100.0
distance
47.561214
seq distance
962
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473217.
original residue
A
variation residue
G
position
1288
score
100.0
distance
47.561214
seq distance
962
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473228.
original residue
F
variation residue
L
position
1344
score
100.0
distance
47.562214
seq distance
1018
chain
B
In BRGDA1; dbSNP:rs199473229.
original residue
F
variation residue
S
position
1344
score
100.0
distance
47.562214
seq distance
1018
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473228.
original residue
F
variation residue
L
position
1344
score
100.0
distance
47.562214
seq distance
1018
chain
B
In BRGDA1; dbSNP:rs199473229.
original residue
F
variation residue
S
position
1344
score
100.0
distance
47.562214
seq distance
1018
chain
B
In LQT3; dbSNP:rs28937317.
original residue
N
variation residue
S
position
1325
score
100.0
distance
47.569202
seq distance
999
chain
B
In LQT3; dbSNP:rs28937317.
original residue
N
variation residue
S
position
1325
score
100.0
distance
47.569202
seq distance
999
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs41311127.
original residue
F
variation residue
S
position
1293
score
100.0
distance
47.720097
seq distance
967
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs41311127.
original residue
F
variation residue
S
position
1293
score
100.0
distance
47.720097
seq distance
967
chain
B
In LQT3; drug-induced LQT syndrome; dbSNP:rs45589741.
original residue
F
variation residue
L
position
1250
score
100.0
distance
47.756645
seq distance
924
chain
B
In LQT3; drug-induced LQT syndrome; dbSNP:rs45589741.
original residue
F
variation residue
L
position
1250
score
100.0
distance
47.756645
seq distance
924
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473166.
original residue
I
variation residue
F
position
848
score
100.0
distance
47.770863
seq distance
522
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473166.
original residue
I
variation residue
F
position
848
score
100.0
distance
47.770863
seq distance
522
chain
B
In dbSNP:rs199473191.
original residue
V
variation residue
L
position
1284
score
50.0
distance
47.787
seq distance
958
chain
B
In dbSNP:rs199473191.
original residue
V
variation residue
L
position
1284
score
50.0
distance
47.787
seq distance
958
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473259.
original residue
T
variation residue
R
position
1488
score
100.0
distance
47.7967
seq distance
1162
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473259.
original residue
T
variation residue
R
position
1488
score
100.0
distance
47.7967
seq distance
1162
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473216.
original residue
L
variation residue
M
position
1283
score
100.0
distance
48.023643
seq distance
957
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473216.
original residue
L
variation residue
M
position
1283
score
100.0
distance
48.023643
seq distance
957
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473052.
original residue
F
variation residue
S
position
221
score
50.0
distance
48.177803
seq distance
59
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473052.
original residue
F
variation residue
S
position
221
score
50.0
distance
48.177803
seq distance
59
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473213.
original residue
V
variation residue
D
position
1249
score
100.0
distance
48.17994
seq distance
923
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473213.
original residue
V
variation residue
D
position
1249
score
100.0
distance
48.17994
seq distance
923
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
P
position
1330
score
100.0
distance
48.23347
seq distance
1004
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
T
position
1330
score
100.0
distance
48.23347
seq distance
1004
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
P
position
1330
score
100.0
distance
48.23347
seq distance
1004
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
T
position
1330
score
100.0
distance
48.23347
seq distance
1004
chain
B
In LQT3; dbSNP:rs199473321.
original residue
D
variation residue
G
position
1280
score
50.0
distance
48.597652
seq distance
954
chain
B
In LQT3; dbSNP:rs199473321.
original residue
D
variation residue
G
position
1280
score
50.0
distance
48.597652
seq distance
954
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473620.
original residue
E
variation residue
K
position
1574
score
100.0
distance
48.658936
seq distance
1248
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473620.
original residue
E
variation residue
K
position
1574
score
100.0
distance
48.658936
seq distance
1248
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473560.
original residue
V
variation residue
L
position
223
score
100.0
distance
48.7525
seq distance
57
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473560.
original residue
V
variation residue
L
position
223
score
100.0
distance
48.7525
seq distance
57
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473254.
original residue
V
variation residue
F
position
1468
score
100.0
distance
48.821896
seq distance
1142
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41315493.
original residue
V
variation residue
L
position
1468
score
54.54545454545454
distance
48.821896
seq distance
1142
chain
B
In ATFB10; dbSNP:rs41315493.
original residue
V
variation residue
M
position
1468
score
54.54545454545454
distance
48.821896
seq distance
1142
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473254.
original residue
V
variation residue
F
position
1468
score
100.0
distance
48.821896
seq distance
1142
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41315493.
original residue
V
variation residue
L
position
1468
score
54.54545454545454
distance
48.821896
seq distance
1142
chain
B
In ATFB10; dbSNP:rs41315493.
original residue
V
variation residue
M
position
1468
score
54.54545454545454
distance
48.821896
seq distance
1142
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473618.
original residue
V
variation residue
I
position
1532
score
100.0
distance
49.2034
seq distance
1206
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473618.
original residue
V
variation residue
I
position
1532
score
100.0
distance
49.2034
seq distance
1206
chain
B
In LQT3; dbSNP:rs199473256.
original residue
F
variation residue
C
position
1473
score
100.0
distance
49.268112
seq distance
1147
chain
B
In LQT3; dbSNP:rs199473256.
original residue
F
variation residue
C
position
1473
score
100.0
distance
49.268112
seq distance
1147
chain
B
In BRGDA1; dbSNP:rs199473261.
original residue
Y
variation residue
N
position
1494
score
100.0
distance
49.62694
seq distance
1168
chain
B
In BRGDA1; dbSNP:rs199473261.
original residue
Y
variation residue
N
position
1494
score
100.0
distance
49.62694
seq distance
1168
chain
B
Found in a patient with long QT syndrome; unknown pathological significance; dbSNP:rs199473263.
original residue
M
variation residue
T
position
1498
score
100.0
distance
49.722687
seq distance
1172
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473264.
original residue
M
variation residue
V
position
1498
score
100.0
distance
49.722687
seq distance
1172
chain
B
Found in a patient with long QT syndrome; unknown pathological significance; dbSNP:rs199473263.
original residue
M
variation residue
T
position
1498
score
100.0
distance
49.722687
seq distance
1172
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473264.
original residue
M
variation residue
V
position
1498
score
100.0
distance
49.722687
seq distance
1172
chain
B
In LQT3 and SIDS; dbSNP:rs199473604.
original residue
S
variation residue
Y
position
1333
score
100.0
distance
49.767307
seq distance
1007
chain
B
In LQT3 and SIDS; dbSNP:rs199473604.
original residue
S
variation residue
Y
position
1333
score
100.0
distance
49.767307
seq distance
1007
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473262.
original residue
Y
variation residue
S
position
1495
score
100.0
distance
49.844715
seq distance
1169
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473262.
original residue
Y
variation residue
S
position
1495
score
100.0
distance
49.844715
seq distance
1169
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473601.
original residue
W
variation residue
C
position
1271
score
100.0
distance
49.92669
seq distance
945
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473601.
original residue
W
variation residue
C
position
1271
score
100.0
distance
49.92669
seq distance
945
chain
B
In BRGDA1; dbSNP:rs137854611.
original residue
A
variation residue
E
position
735
score
100.0
distance
49.971214
seq distance
409
chain
B
In BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs137854611.
original residue
A
variation residue
V
position
735
score
100.0
distance
49.971214
seq distance
409
chain
B
In BRGDA1; dbSNP:rs137854611.
original residue
A
variation residue
E
position
735
score
100.0
distance
49.971214
seq distance
409
chain
B
In BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs137854611.
original residue
A
variation residue
V
position
735
score
100.0
distance
49.971214
seq distance
409
chain
B
In LQT3; dbSNP:rs199473314.
original residue
V
variation residue
M
position
1777
score
90.9090909090909
distance
49.986492
seq distance
1451
chain
B
In LQT3; dbSNP:rs199473314.
original residue
V
variation residue
M
position
1777
score
90.9090909090909
distance
49.986492
seq distance
1451
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473225.
original residue
P
variation residue
L
position
1332
score
100.0
distance
50.523525
seq distance
1006
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473225.
original residue
P
variation residue
L
position
1332
score
100.0
distance
50.523525
seq distance
1006
chain
B
In dbSNP:rs199473600.
original residue
V
variation residue
M
position
1251
score
100.0
distance
50.57101
seq distance
925
chain
B
In dbSNP:rs199473600.
original residue
V
variation residue
M
position
1251
score
100.0
distance
50.57101
seq distance
925
chain
B
In BRGDA1 and LQT3; dbSNP:rs45546039.
original residue
R
variation residue
Q
position
222
score
100.0
distance
50.611923
seq distance
58
chain
B
In BRGDA1 and LQT3; dbSNP:rs45546039.
original residue
R
variation residue
Q
position
222
score
100.0
distance
50.611923
seq distance
58
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473255.
original residue
N
variation residue
S
position
1472
score
100.0
distance
50.825798
seq distance
1146
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473255.
original residue
N
variation residue
S
position
1472
score
100.0
distance
50.825798
seq distance
1146
chain
B
In LQT3; dbSNP:rs199473077.
original residue
Q
variation residue
K
position
245
score
100.0
distance
50.95064
seq distance
35
chain
B
In LQT3; dbSNP:rs199473077.
original residue
Q
variation residue
K
position
245
score
100.0
distance
50.95064
seq distance
35
chain
B
In BRGDA1; dbSNP:rs199473561.
original residue
A
variation residue
V
position
226
score
100.0
distance
51.252068
seq distance
54
chain
B
In BRGDA1; dbSNP:rs199473561.
original residue
A
variation residue
V
position
226
score
100.0
distance
51.252068
seq distance
54
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473616.
original residue
E
variation residue
D
position
1489
score
100.0
distance
51.26707
seq distance
1163
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473616.
original residue
E
variation residue
D
position
1489
score
100.0
distance
51.26707
seq distance
1163
chain
B
Phosphoserine
position
805
score
59.09090909090909
distance
51.464153
seq distance
479
chain
B
Phosphoserine
position
805
score
59.09090909090909
distance
51.464153
seq distance
479
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473076.
original residue
V
variation residue
M
position
240
score
100.0
distance
51.508667
seq distance
40
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473076.
original residue
V
variation residue
M
position
240
score
100.0
distance
51.508667
seq distance
40
chain
B
In BRGDA1; dbSNP:rs199473267.
original residue
G
variation residue
S
position
1502
score
100.0
distance
51.634228
seq distance
1176
chain
B
In BRGDA1; dbSNP:rs199473267.
original residue
G
variation residue
S
position
1502
score
100.0
distance
51.634228
seq distance
1176
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473266.
original residue
L
variation residue
V
position
1501
score
100.0
distance
51.764523
seq distance
1175
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473266.
original residue
L
variation residue
V
position
1501
score
100.0
distance
51.764523
seq distance
1175
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473214.
original residue
E
variation residue
G
position
1253
score
100.0
distance
51.76543
seq distance
927
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473214.
original residue
E
variation residue
G
position
1253
score
100.0
distance
51.76543
seq distance
927
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473061.
original residue
V
variation residue
M
position
146
score
100.0
distance
51.945812
seq distance
134
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473061.
original residue
V
variation residue
M
position
146
score
100.0
distance
51.945812
seq distance
134
chain
B
In LQT3; dbSNP:rs199473070.
original residue
L
variation residue
P
position
212
score
100.0
distance
52.389668
seq distance
68
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473070.
original residue
L
variation residue
Q
position
212
score
100.0
distance
52.389668
seq distance
68
chain
B
In LQT3; dbSNP:rs199473070.
original residue
L
variation residue
P
position
212
score
100.0
distance
52.389668
seq distance
68
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473070.
original residue
L
variation residue
Q
position
212
score
100.0
distance
52.389668
seq distance
68
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473260.
original residue
K
variation residue
R
position
1493
score
100.0
distance
52.53044
seq distance
1167
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473260.
original residue
K
variation residue
R
position
1493
score
100.0
distance
52.53044
seq distance
1167
chain
B
In LQT3; dbSNP:rs199473071.
original residue
R
variation residue
Q
position
225
score
100.0
distance
53.039883
seq distance
55
chain
B
In PFHB1A, BRGDA1 and LQT3; dbSNP:rs199473072.
original residue
R
variation residue
W
position
225
score
100.0
distance
53.039883
seq distance
55
chain
B
In LQT3; dbSNP:rs199473071.
original residue
R
variation residue
Q
position
225
score
100.0
distance
53.039883
seq distance
55
chain
B
In PFHB1A, BRGDA1 and LQT3; dbSNP:rs199473072.
original residue
R
variation residue
W
position
225
score
100.0
distance
53.039883
seq distance
55
chain
B
Induces accelerated recovery from channel fast inactivation.
original residue
Q
variation residue
K
position
1476
score
100.0
distance
53.11651
seq distance
1150
chain
B
Induces accelerated recovery from channel fast inactivation.
original residue
Q
variation residue
K
position
1476
score
100.0
distance
53.11651
seq distance
1150
chain
B
In LQT3; also in SIDS; dbSNP:rs137854605.
original residue
S
variation residue
N
position
941
score
81.81818181818183
distance
53.551777
seq distance
615
chain
B
In LQT3; also in SIDS; dbSNP:rs137854605.
original residue
S
variation residue
N
position
941
score
81.81818181818183
distance
53.551777
seq distance
615
chain
B
In BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no domiFalset negative effect.
original residue
L
variation residue
Q
position
812
score
100.0
distance
54.039543
seq distance
486
chain
B
In BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no domiFalset negative effect.
original residue
L
variation residue
Q
position
812
score
100.0
distance
54.039543
seq distance
486
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473164.
original residue
L
variation residue
P
position
839
score
100.0
distance
54.17484
seq distance
513
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473164.
original residue
L
variation residue
P
position
839
score
100.0
distance
54.17484
seq distance
513
chain
B
In dbSNP:rs199473265.
original residue
K
variation residue
N
position
1500
score
100.0
distance
54.248222
seq distance
1174
chain
B
In BRGDA1.
original residue
variation residue
position
1500
score
100.0
distance
54.248222
seq distance
1174
chain
B
In dbSNP:rs199473265.
original residue
K
variation residue
N
position
1500
score
100.0
distance
54.248222
seq distance
1174
chain
B
In BRGDA1.
original residue
variation residue
position
1500
score
100.0
distance
54.248222
seq distance
1174
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473634.
original residue
T
variation residue
M
position
1779
score
72.72727272727273
distance
54.283936
seq distance
1453
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473634.
original residue
T
variation residue
M
position
1779
score
72.72727272727273
distance
54.283936
seq distance
1453
chain
B
Phosphoserine; by PKC
position
1503
score
100.0
distance
54.300266
seq distance
1177
chain
B
Phosphoserine; by PKC
position
1503
score
100.0
distance
54.300266
seq distance
1177
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473160.
original residue
R
variation residue
P
position
808
score
100.0
distance
54.369537
seq distance
482
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473160.
original residue
R
variation residue
P
position
808
score
100.0
distance
54.369537
seq distance
482
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473150.
original residue
T
variation residue
I
position
731
score
100.0
distance
54.649914
seq distance
405
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473150.
original residue
T
variation residue
I
position
731
score
100.0
distance
54.649914
seq distance
405
chain
B
In BRGDA1; dbSNP:rs199473074.
original residue
I
variation residue
V
position
230
score
100.0
distance
54.695374
seq distance
50
chain
B
In BRGDA1; dbSNP:rs199473074.
original residue
I
variation residue
V
position
230
score
100.0
distance
54.695374
seq distance
50
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473056.
original residue
N
variation residue
K
position
1269
score
54.54545454545454
distance
55.323296
seq distance
943
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473056.
original residue
N
variation residue
K
position
1269
score
54.54545454545454
distance
55.323296
seq distance
943
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473269.
original residue
V
variation residue
M
position
1525
score
100.0
distance
55.51993
seq distance
1199
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473269.
original residue
V
variation residue
M
position
1525
score
100.0
distance
55.51993
seq distance
1199
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473582.
original residue
E
variation residue
K
position
746
score
100.0
distance
55.925575
seq distance
420
chain
B
In dbSNP:rs199473193.
original residue
E
variation residue
K
position
746
score
50.0
distance
55.925575
seq distance
420
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473582.
original residue
E
variation residue
K
position
746
score
100.0
distance
55.925575
seq distance
420
chain
B
In dbSNP:rs199473193.
original residue
E
variation residue
K
position
746
score
50.0
distance
55.925575
seq distance
420
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473162.
original residue
F
variation residue
Y
position
816
score
100.0
distance
56.137943
seq distance
490
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473162.
original residue
F
variation residue
Y
position
816
score
100.0
distance
56.137943
seq distance
490
chain
B
In LQT3.
original residue
variation residue
begin
1505
end
1507
score
100.0
distance
56.528343
seq distance
1179
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473268.
original residue
K
variation residue
N
position
1505
score
100.0
distance
56.528343
seq distance
1179
chain
B
In LQT3.
original residue
variation residue
begin
1505
end
1507
score
100.0
distance
56.528343
seq distance
1179
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473268.
original residue
K
variation residue
N
position
1505
score
100.0
distance
56.528343
seq distance
1179
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473559.
original residue
A
variation residue
V
position
204
score
100.0
distance
57.06193
seq distance
76
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473559.
original residue
A
variation residue
V
position
204
score
100.0
distance
57.06193
seq distance
76
chain
B
In BRGDA1; asymptomatic patient; associated with P-1569; dbSNP:rs199473270.
original residue
K
variation residue
R
position
1527
score
100.0
distance
57.221706
seq distance
1201
chain
B
In BRGDA1; asymptomatic patient; associated with P-1569; dbSNP:rs199473270.
original residue
K
variation residue
R
position
1527
score
100.0
distance
57.221706
seq distance
1201
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473275.
original residue
L
variation residue
P
position
1582
score
100.0
distance
57.38566
seq distance
1256
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473275.
original residue
L
variation residue
P
position
1582
score
100.0
distance
57.38566
seq distance
1256
chain
B
In BRGDA1; dbSNP:rs199473584.
original residue
R
variation residue
Q
position
814
score
100.0
distance
57.53233
seq distance
488
chain
B
In BRGDA1; dbSNP:rs199473584.
original residue
R
variation residue
Q
position
814
score
100.0
distance
57.53233
seq distance
488
chain
B
In BRGDA1.
original residue
variation residue
position
1479
score
100.0
distance
57.804085
seq distance
1153
chain
B
In BRGDA1.
original residue
variation residue
position
1479
score
100.0
distance
57.804085
seq distance
1153
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45514691.
original residue
R
variation residue
C
position
1583
score
100.0
distance
57.877666
seq distance
1257
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473621.
original residue
R
variation residue
H
position
1583
score
100.0
distance
57.877666
seq distance
1257
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45514691.
original residue
R
variation residue
C
position
1583
score
100.0
distance
57.877666
seq distance
1257
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473621.
original residue
R
variation residue
H
position
1583
score
100.0
distance
57.877666
seq distance
1257
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473062.
original residue
E
variation residue
K
position
161
score
100.0
distance
58.049786
seq distance
119
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473062.
original residue
E
variation residue
Q
position
161
score
100.0
distance
58.049786
seq distance
119
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473062.
original residue
E
variation residue
K
position
161
score
100.0
distance
58.049786
seq distance
119
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473062.
original residue
E
variation residue
Q
position
161
score
100.0
distance
58.049786
seq distance
119
chain
B
In LQT3; dbSNP:rs199473257.
original residue
G
variation residue
E
position
1481
score
100.0
distance
58.172985
seq distance
1155
chain
B
In LQT3; dbSNP:rs199473257.
original residue
G
variation residue
E
position
1481
score
100.0
distance
58.172985
seq distance
1155
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473617.
original residue
I
variation residue
K
position
1521
score
100.0
distance
59.514576
seq distance
1195
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473617.
original residue
I
variation residue
K
position
1521
score
100.0
distance
59.514576
seq distance
1195
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473152.
original residue
Q
variation residue
R
position
750
score
100.0
distance
59.610344
seq distance
424
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473152.
original residue
Q
variation residue
R
position
750
score
100.0
distance
59.610344
seq distance
424
chain
B
In BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation.
original residue
K
variation residue
E
position
817
score
100.0
distance
59.757595
seq distance
491
chain
B
In BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation.
original residue
K
variation residue
E
position
817
score
100.0
distance
59.757595
seq distance
491
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45471994.
original residue
V
variation residue
I
position
232
score
100.0
distance
59.872433
seq distance
48
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45471994.
original residue
V
variation residue
I
position
232
score
100.0
distance
59.872433
seq distance
48
chain
B
In LQT3.
original residue
variation residue
begin
1507
end
1509
score
100.0
distance
60.332863
seq distance
1181
chain
B
In LQT3.
original residue
variation residue
begin
1507
end
1509
score
100.0
distance
60.332863
seq distance
1181
chain
B
In ATFB10; dbSNP:rs199473060.
original residue
M
variation residue
I
position
138
score
100.0
distance
60.39751
seq distance
142
chain
B
In ATFB10; dbSNP:rs199473060.
original residue
M
variation residue
I
position
138
score
100.0
distance
60.39751
seq distance
142
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473202.
original residue
Y
variation residue
S
position
1199
score
100.0
distance
61.424248
seq distance
873
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473202.
original residue
Y
variation residue
S
position
1199
score
100.0
distance
61.424248
seq distance
873
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473153.
original residue
G
variation residue
R
position
752
score
100.0
distance
61.51914
seq distance
426
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473153.
original residue
G
variation residue
R
position
752
score
100.0
distance
61.51914
seq distance
426
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs137854616.
original residue
G
variation residue
S
position
1262
score
100.0
distance
62.779644
seq distance
936
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs137854616.
original residue
G
variation residue
S
position
1262
score
100.0
distance
62.779644
seq distance
936
chain
B
In BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke; dbSNP:rs137854602.
original residue
R
variation residue
W
position
1512
score
100.0
distance
64.79114
seq distance
1186
chain
B
In BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke; dbSNP:rs137854602.
original residue
R
variation residue
W
position
1512
score
100.0
distance
64.79114
seq distance
1186
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473159.
original residue
V
variation residue
I
position
789
score
100.0
distance
64.98707
seq distance
463
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473159.
original residue
V
variation residue
I
position
789
score
100.0
distance
64.98707
seq distance
463
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473557.
original residue
L
variation residue
P
position
136
score
100.0
distance
65.22678
seq distance
144
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473557.
original residue
L
variation residue
P
position
136
score
100.0
distance
65.22678
seq distance
144
chain
B
In dbSNP:rs199473125.
original residue
R
variation residue
H
position
1195
score
50.0
distance
66.15478
seq distance
869
chain
B
In dbSNP:rs199473125.
original residue
R
variation residue
H
position
1195
score
50.0
distance
66.15478
seq distance
869
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs137854606.
original residue
G
variation residue
C
position
797
score
50.0
distance
66.40958
seq distance
471
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs137854606.
original residue
G
variation residue
C
position
797
score
50.0
distance
66.40958
seq distance
471
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473067.
original residue
A
variation residue
V
position
185
score
100.0
distance
67.71409
seq distance
95
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473067.
original residue
A
variation residue
V
position
185
score
100.0
distance
67.71409
seq distance
95
chain
B
In BRGDA1; dbSNP:rs199473124.
original residue
L
variation residue
Q
position
1194
score
50.0
distance
67.72309
seq distance
868
chain
B
In BRGDA1; dbSNP:rs199473124.
original residue
L
variation residue
Q
position
1194
score
50.0
distance
67.72309
seq distance
868
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473154.
original residue
G
variation residue
E
position
758
score
100.0
distance
68.30585
seq distance
432
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473154.
original residue
G
variation residue
E
position
758
score
100.0
distance
68.30585
seq distance
432
chain
B
In ATFB10; dbSNP:rs199473111.
original residue
E
variation residue
K
position
428
score
63.63636363636363
distance
68.48303
seq distance
102
chain
B
In ATFB10; dbSNP:rs199473111.
original residue
E
variation residue
K
position
428
score
63.63636363636363
distance
68.48303
seq distance
102
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473063.
original residue
K
variation residue
N
position
175
score
100.0
distance
68.49341
seq distance
105
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473063.
original residue
K
variation residue
N
position
175
score
100.0
distance
68.49341
seq distance
105
chain
B
In BRGDA1; loss of function; dbSNP:rs199473558.
original residue
T
variation residue
I
position
187
score
100.0
distance
68.52038
seq distance
93
chain
B
In BRGDA1; loss of function; dbSNP:rs199473558.
original residue
T
variation residue
I
position
187
score
100.0
distance
68.52038
seq distance
93
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
G
position
1193
score
50.0
distance
70.43898
seq distance
867
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473554.
original residue
R
variation residue
Q
position
1193
score
50.0
distance
70.43898
seq distance
867
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
W
position
1193
score
50.0
distance
70.43898
seq distance
867
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344.
original residue
R
variation residue
Q
position
1193
score
100.0
distance
70.43898
seq distance
867
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
G
position
1193
score
50.0
distance
70.43898
seq distance
867
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473554.
original residue
R
variation residue
Q
position
1193
score
50.0
distance
70.43898
seq distance
867
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
W
position
1193
score
50.0
distance
70.43898
seq distance
867
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344.
original residue
R
variation residue
Q
position
1193
score
100.0
distance
70.43898
seq distance
867
chain
B
In LQT3; unknown pathological significance; dbSNP:rs761375502.
original residue
variation residue
position
429
score
54.54545454545454
distance
70.63034
seq distance
103
chain
B
In LQT3; unknown pathological significance; dbSNP:rs761375502.
original residue
variation residue
position
429
score
54.54545454545454
distance
70.63034
seq distance
103
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473156.
original residue
M
variation residue
R
position
764
score
100.0
distance
71.31124
seq distance
438
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473156.
original residue
M
variation residue
R
position
764
score
100.0
distance
71.31124
seq distance
438
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473066.
original residue
C
variation residue
R
position
182
score
100.0
distance
72.45864
seq distance
98
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473066.
original residue
C
variation residue
R
position
182
score
100.0
distance
72.45864
seq distance
98
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473149.
original residue
P
variation residue
L
position
717
score
100.0
distance
73.12178
seq distance
391
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473149.
original residue
P
variation residue
L
position
717
score
100.0
distance
73.12178
seq distance
391
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473065.
original residue
A
variation residue
G
position
178
score
100.0
distance
73.384964
seq distance
102
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473065.
original residue
A
variation residue
G
position
178
score
100.0
distance
73.384964
seq distance
102
chain
B
In LQT3; dbSNP:rs199473059.
original residue
V
variation residue
L
position
125
score
100.0
distance
75.37313
seq distance
155
chain
B
In LQT3; dbSNP:rs199473059.
original residue
V
variation residue
L
position
125
score
100.0
distance
75.37313
seq distance
155
chain
B
In BRGDA1; dbSNP:rs185492581.
original residue
K
variation residue
E
position
126
score
100.0
distance
76.913765
seq distance
154
chain
B
In BRGDA1; dbSNP:rs185492581.
original residue
K
variation residue
E
position
126
score
100.0
distance
76.913765
seq distance
154
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473158.
original residue
P
variation residue
S
position
773
score
100.0
distance
77.554054
seq distance
447
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473158.
original residue
P
variation residue
S
position
773
score
100.0
distance
77.554054
seq distance
447
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473058.
original residue
R
variation residue
Q
position
121
score
72.72727272727273
distance
78.6646
seq distance
159
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473556.
original residue
R
variation residue
W
position
121
score
72.72727272727273
distance
78.6646
seq distance
159
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473058.
original residue
R
variation residue
Q
position
121
score
72.72727272727273
distance
78.6646
seq distance
159
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473556.
original residue
R
variation residue
W
position
121
score
72.72727272727273
distance
78.6646
seq distance
159
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473157.
original residue
D
variation residue
N
position
772
score
100.0
distance
80.49747
seq distance
446
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473157.
original residue
D
variation residue
N
position
772
score
100.0
distance
80.49747
seq distance
446
chain
B
In dbSNP:rs199473148.
original residue
S
variation residue
F
position
705
score
100.0
distance
89.85927
seq distance
379
chain
B
In dbSNP:rs199473148.
original residue
S
variation residue
F
position
705
score
100.0
distance
89.85927
seq distance
379
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473147.
original residue
P
variation residue
L
position
701
score
72.72727272727273
distance
94.13747
seq distance
375
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473147.
original residue
P
variation residue
L
position
701
score
72.72727272727273
distance
94.13747
seq distance
375
chain
B

Details

Redox score
74.86
PDB code
6lqa
Structure name
voltage-gated sodium channel nav1.5 with quinidine
Structure deposition date
2020-01-13
Thiol separation (Å)
2.02
Half-sphere exposure sum
76
Minimum pKa
nan
% buried
nan
Peptide accession
Q14524
Residue number A
280
Residue number B
326
Peptide name
Sodium channel protein type 5 subunit alpha
A redox-regulated disulphide may form within Sodium channel protein type 5 subunit alpha at these cysteines.

Relevent regions

In LQT3; unknown pathological significance; dbSNP:rs199473094.
original residue
R
variation residue
W
position
340
score
100.0
distance
3.9224007
seq distance
5
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473094.
original residue
R
variation residue
W
position
340
score
100.0
distance
3.9224007
seq distance
5
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473092.
original residue
L
variation residue
R
position
325
score
100.0
distance
4.4932933
seq distance
1
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473092.
original residue
L
variation residue
R
position
325
score
100.0
distance
4.4932933
seq distance
1
chain
B
In BRGDA1; severe reduction of sodium currents; dbSNP:rs199473093.
original residue
P
variation residue
L
position
336
score
100.0
distance
6.094577
seq distance
1
chain
B
In BRGDA1; severe reduction of sodium currents; dbSNP:rs199473093.
original residue
P
variation residue
L
position
336
score
100.0
distance
6.094577
seq distance
1
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473562.
original residue
H
variation residue
D
position
278
score
100.0
distance
7.298803
seq distance
48
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473562.
original residue
H
variation residue
D
position
278
score
100.0
distance
7.298803
seq distance
48
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473082.
original residue
R
variation residue
C
position
282
score
100.0
distance
8.049608
seq distance
44
chain
B
In BRGDA1; dbSNP:rs199473083.
original residue
R
variation residue
H
position
282
score
100.0
distance
8.049608
seq distance
44
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473082.
original residue
R
variation residue
C
position
282
score
100.0
distance
8.049608
seq distance
44
chain
B
In BRGDA1; dbSNP:rs199473083.
original residue
R
variation residue
H
position
282
score
100.0
distance
8.049608
seq distance
44
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473564.
original residue
L
variation residue
P
position
315
score
100.0
distance
8.139514
seq distance
11
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473564.
original residue
L
variation residue
P
position
315
score
100.0
distance
8.139514
seq distance
11
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473081.
original residue
L
variation residue
Q
position
276
score
100.0
distance
11.212457
seq distance
50
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473081.
original residue
L
variation residue
Q
position
276
score
100.0
distance
11.212457
seq distance
50
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473567.
original residue
G
variation residue
E
position
386
score
100.0
distance
11.55873
seq distance
51
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473102.
original residue
G
variation residue
R
position
386
score
100.0
distance
11.55873
seq distance
51
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473567.
original residue
G
variation residue
E
position
386
score
100.0
distance
11.55873
seq distance
51
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473102.
original residue
G
variation residue
R
position
386
score
100.0
distance
11.55873
seq distance
51
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; no effect on voltage dependence for activation and inactivation; dbSNP:rs1060499900.
original residue
D
variation residue
N
position
1690
score
100.0
distance
11.865322
seq distance
1355
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; no effect on voltage dependence for activation and inactivation; dbSNP:rs1060499900.
original residue
D
variation residue
N
position
1690
score
100.0
distance
11.865322
seq distance
1355
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473080.
original residue
N
variation residue
K
position
275
score
100.0
distance
12.446956
seq distance
51
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473080.
original residue
N
variation residue
K
position
275
score
100.0
distance
12.446956
seq distance
51
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473091.
original residue
T
variation residue
N
position
320
score
100.0
distance
15.389263
seq distance
6
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473091.
original residue
T
variation residue
N
position
320
score
100.0
distance
15.389263
seq distance
6
chain
B
In LQT3; dbSNP:rs199473043.
original residue
G
variation residue
V
position
319
score
50.0
distance
16.090113
seq distance
7
chain
B
In BRGDA1; dbSNP:rs199473090.
original residue
G
variation residue
S
position
319
score
100.0
distance
16.090113
seq distance
7
chain
B
In LQT3; dbSNP:rs199473043.
original residue
G
variation residue
V
position
319
score
50.0
distance
16.090113
seq distance
7
chain
B
In BRGDA1; dbSNP:rs199473090.
original residue
G
variation residue
S
position
319
score
100.0
distance
16.090113
seq distance
7
chain
B
In dbSNP:rs199473100.
original residue
R
variation residue
C
position
376
score
100.0
distance
16.32812
seq distance
41
chain
B
In BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation; dbSNP:rs199473101.
original residue
R
variation residue
H
position
376
score
100.0
distance
16.32812
seq distance
41
chain
B
In dbSNP:rs199473100.
original residue
R
variation residue
C
position
376
score
100.0
distance
16.32812
seq distance
41
chain
B
In BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation; dbSNP:rs199473101.
original residue
R
variation residue
H
position
376
score
100.0
distance
16.32812
seq distance
41
chain
B
In BRGDA1; dbSNP:rs199473096.
original residue
T
variation residue
I
position
353
score
100.0
distance
17.815996
seq distance
18
chain
B
In BRGDA1; dbSNP:rs199473096.
original residue
T
variation residue
I
position
353
score
100.0
distance
17.815996
seq distance
18
chain
B
In LQT3 and BRGDA1.
original residue
variation residue
position
1617
score
100.0
distance
18.217173
seq distance
1282
chain
B
In LQT3 and BRGDA1.
original residue
variation residue
position
1617
score
100.0
distance
18.217173
seq distance
1282
chain
B
In LQT3 and PFHB1A; dbSNP:rs199473282.
original residue
T
variation residue
K
position
1620
score
100.0
distance
18.277613
seq distance
1285
chain
B
In BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range; dbSNP:rs199473282.
original residue
T
variation residue
M
position
1620
score
100.0
distance
18.277613
seq distance
1285
chain
B
In LQT3 and PFHB1A; dbSNP:rs199473282.
original residue
T
variation residue
K
position
1620
score
100.0
distance
18.277613
seq distance
1285
chain
B
In BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range; dbSNP:rs199473282.
original residue
T
variation residue
M
position
1620
score
100.0
distance
18.277613
seq distance
1285
chain
B
In PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance; dbSNP:rs137854608.
original residue
G
variation residue
S
position
298
score
100.0
distance
18.466393
seq distance
28
chain
B
In PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance; dbSNP:rs137854608.
original residue
G
variation residue
S
position
298
score
100.0
distance
18.466393
seq distance
28
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473095.
original residue
G
variation residue
D
position
351
score
100.0
distance
18.593767
seq distance
16
chain
B
In BRGDA1; 7-fold current reduction; dbSNP:rs199473095.
original residue
G
variation residue
V
position
351
score
100.0
distance
18.593767
seq distance
16
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473095.
original residue
G
variation residue
D
position
351
score
100.0
distance
18.593767
seq distance
16
chain
B
In BRGDA1; 7-fold current reduction; dbSNP:rs199473095.
original residue
G
variation residue
V
position
351
score
100.0
distance
18.593767
seq distance
16
chain
B
In dbSNP:rs61746118.
original residue
A
variation residue
S
position
286
score
100.0
distance
18.678001
seq distance
40
chain
B
In dbSNP:rs61746118.
original residue
A
variation residue
S
position
286
score
100.0
distance
18.678001
seq distance
40
chain
B
In BRGDA1; loss of function; dbSNP:rs199473565.
original residue
D
variation residue
N
position
356
score
100.0
distance
19.443756
seq distance
21
chain
B
In BRGDA1; loss of function; dbSNP:rs199473565.
original residue
D
variation residue
N
position
356
score
100.0
distance
19.443756
seq distance
21
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473295.
original residue
A
variation residue
T
position
1698
score
100.0
distance
19.92735
seq distance
1363
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473295.
original residue
A
variation residue
T
position
1698
score
100.0
distance
19.92735
seq distance
1363
chain
B
In dbSNP:rs199473087.
original residue
L
variation residue
M
position
299
score
100.0
distance
20.282423
seq distance
27
chain
B
In dbSNP:rs199473087.
original residue
L
variation residue
M
position
299
score
100.0
distance
20.282423
seq distance
27
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473566.
original residue
W
variation residue
G
position
374
score
100.0
distance
20.428709
seq distance
39
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473566.
original residue
W
variation residue
G
position
374
score
100.0
distance
20.428709
seq distance
39
chain
B
In BRGDA1; dbSNP:rs199473086.
original residue
V
variation residue
M
position
294
score
100.0
distance
20.874195
seq distance
32
chain
B
In BRGDA1; dbSNP:rs199473086.
original residue
V
variation residue
M
position
294
score
100.0
distance
20.874195
seq distance
32
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473088.
original residue
V
variation residue
I
position
300
score
100.0
distance
21.369577
seq distance
26
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473088.
original residue
V
variation residue
I
position
300
score
100.0
distance
21.369577
seq distance
26
chain
B
In BRGDA1.
original residue
variation residue
position
393
score
100.0
distance
21.516794
seq distance
58
chain
B
In BRGDA1.
original residue
variation residue
position
393
score
100.0
distance
21.516794
seq distance
58
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473079.
original residue
Q
variation residue
K
position
270
score
100.0
distance
22.19482
seq distance
56
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473079.
original residue
Q
variation residue
K
position
270
score
100.0
distance
22.19482
seq distance
56
chain
B
In LQT3; dbSNP:rs137854600.
original residue
R
variation residue
L
position
1623
score
100.0
distance
22.301327
seq distance
1288
chain
B
In LQT3 and BRGDA1; dbSNP:rs137854600.
original residue
R
variation residue
Q
position
1623
score
100.0
distance
22.301327
seq distance
1288
chain
B
In LQT3; dbSNP:rs137854600.
original residue
R
variation residue
L
position
1623
score
100.0
distance
22.301327
seq distance
1288
chain
B
In LQT3 and BRGDA1; dbSNP:rs137854600.
original residue
R
variation residue
Q
position
1623
score
100.0
distance
22.301327
seq distance
1288
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473298.
original residue
G
variation residue
S
position
1712
score
100.0
distance
22.939388
seq distance
1377
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473298.
original residue
G
variation residue
S
position
1712
score
100.0
distance
22.939388
seq distance
1377
chain
B
In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation; dbSNP:rs199473627.
original residue
F
variation residue
S
position
1705
score
100.0
distance
23.395363
seq distance
1370
chain
B
In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation; dbSNP:rs199473627.
original residue
F
variation residue
S
position
1705
score
100.0
distance
23.395363
seq distance
1370
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473294.
original residue
A
variation residue
T
position
1680
score
100.0
distance
23.454552
seq distance
1345
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473294.
original residue
A
variation residue
T
position
1680
score
100.0
distance
23.454552
seq distance
1345
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473205.
original residue
Y
variation residue
H
position
1228
score
100.0
distance
23.618204
seq distance
893
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473205.
original residue
Y
variation residue
H
position
1228
score
100.0
distance
23.618204
seq distance
893
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473174.
original residue
E
variation residue
K
position
901
score
100.0
distance
24.465033
seq distance
566
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473174.
original residue
E
variation residue
K
position
901
score
100.0
distance
24.465033
seq distance
566
chain
B
In BRGDA1 and LQT3; express no current; dbSNP:rs199473097.
original residue
R
variation residue
C
position
367
score
100.0
distance
25.078587
seq distance
32
chain
B
In BRGDA1; express no current; dbSNP:rs28937318.
original residue
R
variation residue
H
position
367
score
100.0
distance
25.078587
seq distance
32
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs28937318.
original residue
R
variation residue
L
position
367
score
100.0
distance
25.078587
seq distance
32
chain
B
In BRGDA1 and LQT3; express no current; dbSNP:rs199473097.
original residue
R
variation residue
C
position
367
score
100.0
distance
25.078587
seq distance
32
chain
B
In BRGDA1; express no current; dbSNP:rs28937318.
original residue
R
variation residue
H
position
367
score
100.0
distance
25.078587
seq distance
32
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs28937318.
original residue
R
variation residue
L
position
367
score
100.0
distance
25.078587
seq distance
32
chain
B
In BRGDA1; strong decrease of current density; does not affect ion selectivity properties; dbSNP:rs199473628.
original residue
D
variation residue
G
position
1714
score
100.0
distance
25.330168
seq distance
1379
chain
B
In BRGDA1; strong decrease of current density; does not affect ion selectivity properties; dbSNP:rs199473628.
original residue
D
variation residue
G
position
1714
score
100.0
distance
25.330168
seq distance
1379
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473302.
original residue
C
variation residue
R
position
1728
score
100.0
distance
25.821497
seq distance
1393
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs193922726.
original residue
C
variation residue
W
position
1728
score
100.0
distance
25.821497
seq distance
1393
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473302.
original residue
C
variation residue
R
position
1728
score
100.0
distance
25.821497
seq distance
1393
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs193922726.
original residue
C
variation residue
W
position
1728
score
100.0
distance
25.821497
seq distance
1393
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473103.
original residue
V
variation residue
A
position
396
score
100.0
distance
25.97879
seq distance
61
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473104.
original residue
V
variation residue
L
position
396
score
100.0
distance
25.97879
seq distance
61
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473103.
original residue
V
variation residue
A
position
396
score
100.0
distance
25.97879
seq distance
61
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473104.
original residue
V
variation residue
L
position
396
score
100.0
distance
25.97879
seq distance
61
chain
B
In dbSNP:rs45553235.
original residue
Q
variation residue
K
position
1613
score
50.0
distance
26.319195
seq distance
1278
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473281.
original residue
Q
variation residue
L
position
1613
score
100.0
distance
26.319195
seq distance
1278
chain
B
In dbSNP:rs45553235.
original residue
Q
variation residue
K
position
1613
score
50.0
distance
26.319195
seq distance
1278
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473281.
original residue
Q
variation residue
L
position
1613
score
100.0
distance
26.319195
seq distance
1278
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473271.
original residue
E
variation residue
K
position
1548
score
100.0
distance
26.319471
seq distance
1213
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473271.
original residue
E
variation residue
K
position
1548
score
100.0
distance
26.319471
seq distance
1213
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473105.
original residue
I
variation residue
T
position
397
score
100.0
distance
26.325132
seq distance
62
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473105.
original residue
I
variation residue
T
position
397
score
100.0
distance
26.325132
seq distance
62
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473084.
original residue
G
variation residue
S
position
289
score
100.0
distance
26.469728
seq distance
37
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473084.
original residue
G
variation residue
S
position
289
score
100.0
distance
26.469728
seq distance
37
chain
B
In LQT3; dbSNP:rs199473598.
original residue
E
variation residue
K
position
1231
score
100.0
distance
26.561085
seq distance
896
chain
B
In LQT3; dbSNP:rs199473598.
original residue
E
variation residue
K
position
1231
score
100.0
distance
26.561085
seq distance
896
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473626.
original residue
S
variation residue
Y
position
1672
score
100.0
distance
26.894915
seq distance
1337
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473626.
original residue
S
variation residue
Y
position
1672
score
100.0
distance
26.894915
seq distance
1337
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
H
position
1626
score
100.0
distance
26.948605
seq distance
1291
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
P
position
1626
score
100.0
distance
26.948605
seq distance
1291
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
H
position
1626
score
100.0
distance
26.948605
seq distance
1291
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
P
position
1626
score
100.0
distance
26.948605
seq distance
1291
chain
B
4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
original residue
K
variation residue
A
position
1614
score
100.0
distance
27.403576
seq distance
1279
chain
B
4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
original residue
K
variation residue
A
position
1614
score
100.0
distance
27.403576
seq distance
1279
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
M
position
1709
score
100.0
distance
27.459974
seq distance
1374
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
R
position
1709
score
100.0
distance
27.459974
seq distance
1374
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
M
position
1709
score
100.0
distance
27.459974
seq distance
1374
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
R
position
1709
score
100.0
distance
27.459974
seq distance
1374
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473611.
original residue
G
variation residue
R
position
1420
score
100.0
distance
27.513802
seq distance
1085
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473611.
original residue
G
variation residue
R
position
1420
score
100.0
distance
27.513802
seq distance
1085
chain
B
In dbSNP:rs199473563.
original residue
N
variation residue
S
position
291
score
100.0
distance
27.61075
seq distance
35
chain
B
In dbSNP:rs199473563.
original residue
N
variation residue
S
position
291
score
100.0
distance
27.61075
seq distance
35
chain
B
In BRGDA1; dbSNP:rs199473098.
original residue
M
variation residue
K
position
369
score
100.0
distance
27.63284
seq distance
34
chain
B
In BRGDA1; dbSNP:rs199473098.
original residue
M
variation residue
K
position
369
score
100.0
distance
27.63284
seq distance
34
chain
B
In VF1; dbSNP:rs137854604.
original residue
S
variation residue
L
position
1710
score
100.0
distance
27.692595
seq distance
1375
chain
B
In VF1; dbSNP:rs137854604.
original residue
S
variation residue
L
position
1710
score
100.0
distance
27.692595
seq distance
1375
chain
B
In BRGDA1; dbSNP:rs199473629.
original residue
G
variation residue
E
position
1743
score
100.0
distance
27.887316
seq distance
1408
chain
B
In BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells; dbSNP:rs199473305.
original residue
G
variation residue
R
position
1743
score
100.0
distance
27.887316
seq distance
1408
chain
B
In BRGDA1; dbSNP:rs199473629.
original residue
G
variation residue
E
position
1743
score
100.0
distance
27.887316
seq distance
1408
chain
B
In BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells; dbSNP:rs199473305.
original residue
G
variation residue
R
position
1743
score
100.0
distance
27.887316
seq distance
1408
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473206.
original residue
R
variation residue
Q
position
1232
score
100.0
distance
27.961409
seq distance
897
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473207.
original residue
R
variation residue
W
position
1232
score
100.0
distance
27.961409
seq distance
897
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473206.
original residue
R
variation residue
Q
position
1232
score
100.0
distance
27.961409
seq distance
897
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473207.
original residue
R
variation residue
W
position
1232
score
100.0
distance
27.961409
seq distance
897
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473242.
original residue
K
variation residue
E
position
1419
score
100.0
distance
27.999817
seq distance
1084
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473242.
original residue
K
variation residue
E
position
1419
score
100.0
distance
27.999817
seq distance
1084
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473299.
original residue
N
variation residue
D
position
1722
score
100.0
distance
28.415249
seq distance
1387
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473299.
original residue
N
variation residue
D
position
1722
score
100.0
distance
28.415249
seq distance
1387
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473204.
original residue
E
variation residue
K
position
1225
score
100.0
distance
28.625362
seq distance
890
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473204.
original residue
E
variation residue
K
position
1225
score
100.0
distance
28.625362
seq distance
890
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473099.
original residue
T
variation residue
M
position
370
score
100.0
distance
28.843065
seq distance
35
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473099.
original residue
T
variation residue
M
position
370
score
100.0
distance
28.843065
seq distance
35
chain
B
In BRGDA1; dbSNP:rs199473304.
original residue
G
variation residue
R
position
1740
score
100.0
distance
29.158136
seq distance
1405
chain
B
In BRGDA1; dbSNP:rs199473304.
original residue
G
variation residue
R
position
1740
score
100.0
distance
29.158136
seq distance
1405
chain
B
In LQT3; dbSNP:rs199473622.
original residue
S
variation residue
W
position
1609
score
100.0
distance
30.05936
seq distance
1274
chain
B
In LQT3; dbSNP:rs199473622.
original residue
S
variation residue
W
position
1609
score
100.0
distance
30.05936
seq distance
1274
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; changed voltage dependence for activation and inactivation.
original residue
G
variation residue
D
position
1748
score
100.0
distance
30.466068
seq distance
1413
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; changed voltage dependence for activation and inactivation.
original residue
G
variation residue
D
position
1748
score
100.0
distance
30.466068
seq distance
1413
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473303.
original residue
R
variation residue
W
position
1739
score
100.0
distance
30.735027
seq distance
1404
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473303.
original residue
R
variation residue
W
position
1739
score
100.0
distance
30.735027
seq distance
1404
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473300.
original residue
T
variation residue
N
position
1723
score
100.0
distance
30.995573
seq distance
1388
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473300.
original residue
T
variation residue
N
position
1723
score
100.0
distance
30.995573
seq distance
1388
chain
B
In BRGDA1; dbSNP:rs199473168.
original residue
R
variation residue
C
position
878
score
100.0
distance
31.25238
seq distance
543
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473587.
original residue
R
variation residue
H
position
878
score
100.0
distance
31.25238
seq distance
543
chain
B
In BRGDA1; dbSNP:rs199473168.
original residue
R
variation residue
C
position
878
score
100.0
distance
31.25238
seq distance
543
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473587.
original residue
R
variation residue
H
position
878
score
100.0
distance
31.25238
seq distance
543
chain
B
Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
original residue
D
variation residue
A
position
1610
score
100.0
distance
31.364725
seq distance
1275
chain
B
High decrease in affinity to the sea anemone toxin anthopleurin-B.
original residue
D
variation residue
R
position
1610
score
100.0
distance
31.364725
seq distance
1275
chain
B
Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
original residue
D
variation residue
A
position
1610
score
100.0
distance
31.364725
seq distance
1275
chain
B
High decrease in affinity to the sea anemone toxin anthopleurin-B.
original residue
D
variation residue
R
position
1610
score
100.0
distance
31.364725
seq distance
1275
chain
B
Phosphoserine
position
1744
score
50.0
distance
31.396786
seq distance
1409
chain
B
Phosphoserine
position
1744
score
50.0
distance
31.396786
seq distance
1409
chain
B
In BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation; dbSNP:rs199473180.
original residue
R
variation residue
C
position
1629
score
59.09090909090909
distance
31.959492
seq distance
1294
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
H
position
1629
score
59.09090909090909
distance
31.959492
seq distance
1294
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
L
position
1629
score
59.09090909090909
distance
31.959492
seq distance
1294
chain
B
In BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation; dbSNP:rs199473623.
original residue
R
variation residue
Q
position
1629
score
100.0
distance
31.959492
seq distance
1294
chain
B
In BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation; dbSNP:rs199473180.
original residue
R
variation residue
C
position
1629
score
59.09090909090909
distance
31.959492
seq distance
1294
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
H
position
1629
score
59.09090909090909
distance
31.959492
seq distance
1294
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
L
position
1629
score
59.09090909090909
distance
31.959492
seq distance
1294
chain
B
In BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation; dbSNP:rs199473623.
original residue
R
variation residue
Q
position
1629
score
100.0
distance
31.959492
seq distance
1294
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473588.
original residue
C
variation residue
R
position
915
score
100.0
distance
32.523262
seq distance
580
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473588.
original residue
C
variation residue
R
position
915
score
100.0
distance
32.523262
seq distance
580
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473619.
original residue
L
variation residue
F
position
1560
score
100.0
distance
32.52993
seq distance
1225
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473619.
original residue
L
variation residue
F
position
1560
score
100.0
distance
32.52993
seq distance
1225
chain
B
In BRGDA1; dbSNP:rs199473175.
original residue
S
variation residue
L
position
910
score
100.0
distance
32.580013
seq distance
575
chain
B
In BRGDA1; dbSNP:rs199473175.
original residue
S
variation residue
L
position
910
score
100.0
distance
32.580013
seq distance
575
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473293.
original residue
V
variation residue
I
position
1667
score
100.0
distance
33.12633
seq distance
1332
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473293.
original residue
V
variation residue
I
position
1667
score
100.0
distance
33.12633
seq distance
1332
chain
B
In BRGDA1; dbSNP:rs199473208.
original residue
K
variation residue
N
position
1236
score
100.0
distance
33.15677
seq distance
901
chain
B
In BRGDA1; dbSNP:rs199473208.
original residue
K
variation residue
N
position
1236
score
100.0
distance
33.15677
seq distance
901
chain
B
In LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation; dbSNP:rs794728898.
original residue
H
variation residue
R
position
880
score
50.0
distance
33.386234
seq distance
545
chain
B
In LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation; dbSNP:rs794728898.
original residue
H
variation residue
R
position
880
score
50.0
distance
33.386234
seq distance
545
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473171.
original residue
R
variation residue
C
position
893
score
100.0
distance
33.486946
seq distance
558
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473172.
original residue
R
variation residue
H
position
893
score
100.0
distance
33.486946
seq distance
558
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473171.
original residue
R
variation residue
C
position
893
score
100.0
distance
33.486946
seq distance
558
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473172.
original residue
R
variation residue
H
position
893
score
100.0
distance
33.486946
seq distance
558
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473244.
original residue
A
variation residue
S
position
1427
score
100.0
distance
33.788223
seq distance
1092
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473244.
original residue
A
variation residue
S
position
1427
score
100.0
distance
33.788223
seq distance
1092
chain
B
In BRGDA1; dbSNP:rs199473173.
original residue
C
variation residue
S
position
896
score
100.0
distance
34.319637
seq distance
561
chain
B
In BRGDA1; dbSNP:rs199473173.
original residue
C
variation residue
S
position
896
score
100.0
distance
34.319637
seq distance
561
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473237.
original residue
C
variation residue
Y
position
1363
score
100.0
distance
34.324387
seq distance
1028
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473237.
original residue
C
variation residue
Y
position
1363
score
100.0
distance
34.324387
seq distance
1028
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473292.
original residue
G
variation residue
R
position
1661
score
100.0
distance
34.35999
seq distance
1326
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473292.
original residue
G
variation residue
R
position
1661
score
100.0
distance
34.35999
seq distance
1326
chain
B
In LQT3; dbSNP:rs199473107.
original residue
L
variation residue
Q
position
404
score
100.0
distance
34.778065
seq distance
69
chain
B
In LQT3; dbSNP:rs199473107.
original residue
L
variation residue
Q
position
404
score
100.0
distance
34.778065
seq distance
69
chain
B
In LQT3; dbSNP:rs199473631.
original residue
V
variation residue
M
position
1763
score
100.0
distance
35.09499
seq distance
1428
chain
B
In LQT3; dbSNP:rs199473631.
original residue
V
variation residue
M
position
1763
score
100.0
distance
35.09499
seq distance
1428
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473176.
original residue
L
variation residue
R
position
917
score
100.0
distance
35.17483
seq distance
582
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473176.
original residue
L
variation residue
R
position
917
score
100.0
distance
35.17483
seq distance
582
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473167.
original residue
E
variation residue
Q
position
867
score
100.0
distance
35.259586
seq distance
532
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473167.
original residue
E
variation residue
Q
position
867
score
100.0
distance
35.259586
seq distance
532
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473280.
original residue
V
variation residue
M
position
1604
score
100.0
distance
35.422714
seq distance
1269
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473280.
original residue
V
variation residue
M
position
1604
score
100.0
distance
35.422714
seq distance
1269
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473597.
original residue
S
variation residue
N
position
1219
score
100.0
distance
35.526047
seq distance
884
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473597.
original residue
S
variation residue
N
position
1219
score
100.0
distance
35.526047
seq distance
884
chain
B
In LQT3; dbSNP:rs199473603.
original residue
T
variation residue
M
position
1304
score
100.0
distance
35.786156
seq distance
969
chain
B
In LQT3; dbSNP:rs199473603.
original residue
T
variation residue
M
position
1304
score
100.0
distance
35.786156
seq distance
969
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473210.
original residue
L
variation residue
P
position
1239
score
100.0
distance
36.021305
seq distance
904
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473210.
original residue
L
variation residue
P
position
1239
score
100.0
distance
36.021305
seq distance
904
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473236.
original residue
F
variation residue
C
position
1360
score
100.0
distance
36.70332
seq distance
1025
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473236.
original residue
F
variation residue
C
position
1360
score
100.0
distance
36.70332
seq distance
1025
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473612.
original residue
A
variation residue
V
position
1428
score
100.0
distance
37.075428
seq distance
1093
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473612.
original residue
A
variation residue
V
position
1428
score
100.0
distance
37.075428
seq distance
1093
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473248.
original residue
P
variation residue
L
position
1438
score
100.0
distance
37.208324
seq distance
1103
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473248.
original residue
P
variation residue
L
position
1438
score
100.0
distance
37.208324
seq distance
1103
chain
B
In BRGDA1; dbSNP:rs199473170.
original residue
F
variation residue
I
position
892
score
100.0
distance
37.248474
seq distance
557
chain
B
In BRGDA1; dbSNP:rs199473170.
original residue
F
variation residue
I
position
892
score
100.0
distance
37.248474
seq distance
557
chain
B
In LQT3; dbSNP:rs199473108.
original residue
N
variation residue
K
position
406
score
100.0
distance
37.301376
seq distance
71
chain
B
In BRGDA1; dbSNP:rs199473568.
original residue
N
variation residue
S
position
406
score
100.0
distance
37.301376
seq distance
71
chain
B
In LQT3; dbSNP:rs199473108.
original residue
N
variation residue
K
position
406
score
100.0
distance
37.301376
seq distance
71
chain
B
In BRGDA1; dbSNP:rs199473568.
original residue
N
variation residue
S
position
406
score
100.0
distance
37.301376
seq distance
71
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473241.
original residue
L
variation residue
F
position
1412
score
100.0
distance
37.321228
seq distance
1077
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473241.
original residue
L
variation residue
F
position
1412
score
100.0
distance
37.321228
seq distance
1077
chain
B
In BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane; dbSNP:rs199473625.
original residue
I
variation residue
V
position
1660
score
100.0
distance
37.735966
seq distance
1325
chain
B
In BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane; dbSNP:rs199473625.
original residue
I
variation residue
V
position
1660
score
100.0
distance
37.735966
seq distance
1325
chain
B
Associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031.
original residue
L
variation residue
F
position
1308
score
100.0
distance
37.78793
seq distance
973
chain
B
Associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031.
original residue
L
variation residue
F
position
1308
score
100.0
distance
37.78793
seq distance
973
chain
B
In dbSNP:rs199473177.
original residue
V
variation residue
I
position
924
score
100.0
distance
37.826027
seq distance
589
chain
B
In dbSNP:rs199473177.
original residue
V
variation residue
I
position
924
score
100.0
distance
37.826027
seq distance
589
chain
B
May confer susceptibility to acquired arrhythmia; dbSNP:rs7626962.
original residue
S
variation residue
Y
position
1218
score
50.0
distance
37.912724
seq distance
883
chain
B
May confer susceptibility to acquired arrhythmia; dbSNP:rs7626962.
original residue
S
variation residue
Y
position
1218
score
50.0
distance
37.912724
seq distance
883
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473169.
original residue
H
variation residue
P
position
886
score
100.0
distance
38.0871
seq distance
551
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473169.
original residue
H
variation residue
P
position
886
score
100.0
distance
38.0871
seq distance
551
chain
B
In LQT3; affects protein trafficking; dbSNP:rs199473310.
original residue
M
variation residue
L
position
1766
score
100.0
distance
38.140976
seq distance
1431
chain
B
In LQT3; affects protein trafficking; dbSNP:rs199473310.
original residue
M
variation residue
L
position
1766
score
100.0
distance
38.140976
seq distance
1431
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473307.
original residue
L
variation residue
F
position
1761
score
100.0
distance
38.257294
seq distance
1426
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473308.
original residue
L
variation residue
H
position
1761
score
100.0
distance
38.257294
seq distance
1426
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473307.
original residue
L
variation residue
F
position
1761
score
100.0
distance
38.257294
seq distance
1426
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473308.
original residue
L
variation residue
H
position
1761
score
100.0
distance
38.257294
seq distance
1426
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473249.
original residue
E
variation residue
Q
position
1441
score
100.0
distance
38.401917
seq distance
1106
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473249.
original residue
E
variation residue
Q
position
1441
score
100.0
distance
38.401917
seq distance
1106
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473309.
original residue
V
variation residue
F
position
1764
score
100.0
distance
38.568333
seq distance
1429
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473309.
original residue
V
variation residue
F
position
1764
score
100.0
distance
38.568333
seq distance
1429
chain
B
In dbSNP:rs199473211.
original residue
E
variation residue
Q
position
1240
score
100.0
distance
38.72868
seq distance
905
chain
B
In dbSNP:rs199473211.
original residue
E
variation residue
Q
position
1240
score
100.0
distance
38.72868
seq distance
905
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473589.
original residue
N
variation residue
S
position
927
score
100.0
distance
38.847984
seq distance
592
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473589.
original residue
N
variation residue
S
position
927
score
100.0
distance
38.847984
seq distance
592
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473610.
original residue
Y
variation residue
C
position
1409
score
100.0
distance
39.47031
seq distance
1074
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473610.
original residue
Y
variation residue
C
position
1409
score
100.0
distance
39.47031
seq distance
1074
chain
B
In SSS1 and BRGDA1; dbSNP:rs137854612.
original residue
G
variation residue
R
position
1408
score
100.0
distance
39.545994
seq distance
1073
chain
B
In SSS1 and BRGDA1; dbSNP:rs137854612.
original residue
G
variation residue
R
position
1408
score
100.0
distance
39.545994
seq distance
1073
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473632.
original residue
Y
variation residue
C
position
1767
score
100.0
distance
39.702393
seq distance
1432
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473632.
original residue
Y
variation residue
C
position
1767
score
100.0
distance
39.702393
seq distance
1432
chain
B
In LQT3; dbSNP:rs199473253.
original residue
S
variation residue
Y
position
1458
score
100.0
distance
39.930267
seq distance
1123
chain
B
In LQT3; dbSNP:rs199473253.
original residue
S
variation residue
Y
position
1458
score
100.0
distance
39.930267
seq distance
1123
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473219.
original residue
L
variation residue
P
position
1311
score
100.0
distance
39.964615
seq distance
976
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473219.
original residue
L
variation residue
P
position
1311
score
100.0
distance
39.964615
seq distance
976
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473599.
original residue
D
variation residue
N
position
1243
score
100.0
distance
40.19968
seq distance
908
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473599.
original residue
D
variation residue
N
position
1243
score
100.0
distance
40.19968
seq distance
908
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473290.
original residue
L
variation residue
F
position
1650
score
100.0
distance
40.265488
seq distance
1315
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473290.
original residue
L
variation residue
F
position
1650
score
100.0
distance
40.265488
seq distance
1315
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473235.
original residue
K
variation residue
N
position
1359
score
100.0
distance
40.396687
seq distance
1024
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473235.
original residue
K
variation residue
N
position
1359
score
100.0
distance
40.396687
seq distance
1024
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473252.
original residue
V
variation residue
D
position
1451
score
100.0
distance
40.71507
seq distance
1116
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473252.
original residue
V
variation residue
D
position
1451
score
100.0
distance
40.71507
seq distance
1116
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473109.
original residue
L
variation residue
V
position
409
score
100.0
distance
41.26927
seq distance
74
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473109.
original residue
L
variation residue
V
position
409
score
100.0
distance
41.26927
seq distance
74
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473609.
original residue
G
variation residue
E
position
1406
score
100.0
distance
41.679142
seq distance
1071
chain
B
In BRGDA1; dbSNP:rs199473240.
original residue
G
variation residue
R
position
1406
score
100.0
distance
41.679142
seq distance
1071
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473609.
original residue
G
variation residue
E
position
1406
score
100.0
distance
41.679142
seq distance
1071
chain
B
In BRGDA1; dbSNP:rs199473240.
original residue
G
variation residue
R
position
1406
score
100.0
distance
41.679142
seq distance
1071
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473234.
original residue
G
variation residue
W
position
1358
score
100.0
distance
41.730656
seq distance
1023
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473234.
original residue
G
variation residue
W
position
1358
score
100.0
distance
41.730656
seq distance
1023
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473178.
original residue
L
variation residue
P
position
928
score
100.0
distance
41.807045
seq distance
593
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473178.
original residue
L
variation residue
P
position
928
score
100.0
distance
41.807045
seq distance
593
chain
B
In SSS1; dbSNP:rs28937319.
original residue
P
variation residue
L
position
1298
score
100.0
distance
42.299683
seq distance
963
chain
B
In SSS1; dbSNP:rs28937319.
original residue
P
variation residue
L
position
1298
score
100.0
distance
42.299683
seq distance
963
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473045.
original residue
R
variation residue
H
position
1432
score
54.54545454545454
distance
42.389496
seq distance
1097
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473245.
original residue
R
variation residue
G
position
1432
score
100.0
distance
42.389496
seq distance
1097
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473246.
original residue
R
variation residue
S
position
1432
score
100.0
distance
42.389496
seq distance
1097
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473045.
original residue
R
variation residue
H
position
1432
score
54.54545454545454
distance
42.389496
seq distance
1097
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473245.
original residue
R
variation residue
G
position
1432
score
100.0
distance
42.389496
seq distance
1097
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473246.
original residue
R
variation residue
S
position
1432
score
100.0
distance
42.389496
seq distance
1097
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473277.
original residue
F
variation residue
S
position
1594
score
100.0
distance
42.40336
seq distance
1259
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473277.
original residue
F
variation residue
S
position
1594
score
100.0
distance
42.40336
seq distance
1259
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473250.
original residue
I
variation residue
L
position
1448
score
100.0
distance
42.641598
seq distance
1113
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473251.
original residue
I
variation residue
T
position
1448
score
100.0
distance
42.641598
seq distance
1113
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473250.
original residue
I
variation residue
L
position
1448
score
100.0
distance
42.641598
seq distance
1113
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473251.
original residue
I
variation residue
T
position
1448
score
100.0
distance
42.641598
seq distance
1113
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473613.
original residue
Y
variation residue
C
position
1449
score
100.0
distance
42.709976
seq distance
1114
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473613.
original residue
Y
variation residue
C
position
1449
score
100.0
distance
42.709976
seq distance
1114
chain
B
In BRGDA1; asymptomatic patient; associated with R-1527; dbSNP:rs199473273.
original residue
A
variation residue
P
position
1569
score
100.0
distance
42.795376
seq distance
1234
chain
B
In BRGDA1; asymptomatic patient; associated with R-1527; dbSNP:rs199473273.
original residue
A
variation residue
P
position
1569
score
100.0
distance
42.795376
seq distance
1234
chain
B
In LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation; dbSNP:rs199473218.
original residue
E
variation residue
K
position
1295
score
100.0
distance
42.825638
seq distance
960
chain
B
In LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation; dbSNP:rs199473218.
original residue
E
variation residue
K
position
1295
score
100.0
distance
42.825638
seq distance
960
chain
B
In PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3; dbSNP:rs137854607.
original residue
D
variation residue
N
position
1595
score
100.0
distance
43.082317
seq distance
1260
chain
B
In PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3; dbSNP:rs137854607.
original residue
D
variation residue
N
position
1595
score
100.0
distance
43.082317
seq distance
1260
chain
B
In LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve; dbSNP:rs199473311.
original residue
I
variation residue
V
position
1768
score
100.0
distance
43.1785
seq distance
1433
chain
B
In LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve; dbSNP:rs199473311.
original residue
I
variation residue
V
position
1768
score
100.0
distance
43.1785
seq distance
1433
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473221.
original residue
V
variation residue
G
position
1323
score
100.0
distance
43.24036
seq distance
988
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473221.
original residue
V
variation residue
G
position
1323
score
100.0
distance
43.24036
seq distance
988
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473274.
original residue
F
variation residue
C
position
1571
score
100.0
distance
43.48005
seq distance
1236
chain
B
In BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest; dbSNP:rs1369632373.
original residue
F
variation residue
L
position
1571
score
100.0
distance
43.48005
seq distance
1236
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473274.
original residue
F
variation residue
C
position
1571
score
100.0
distance
43.48005
seq distance
1236
chain
B
In BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest; dbSNP:rs1369632373.
original residue
F
variation residue
L
position
1571
score
100.0
distance
43.48005
seq distance
1236
chain
B
In BRGDA1; dbSNP:rs199473220.
original residue
G
variation residue
V
position
1319
score
100.0
distance
43.638252
seq distance
984
chain
B
In BRGDA1; dbSNP:rs199473220.
original residue
G
variation residue
V
position
1319
score
100.0
distance
43.638252
seq distance
984
chain
B
In LQT3; unknown pathological significance; dbSNP:rs794728920.
original residue
variation residue
position
1212
score
100.0
distance
43.641117
seq distance
877
chain
B
In LQT3; unknown pathological significance; dbSNP:rs794728920.
original residue
variation residue
position
1212
score
100.0
distance
43.641117
seq distance
877
chain
B
In BRGDA1; dbSNP:rs199473289.
original residue
A
variation residue
V
position
1649
score
100.0
distance
43.684612
seq distance
1314
chain
B
In LQT3; dbSNP:rs199473330.
original residue
A
variation residue
S
position
1649
score
54.54545454545454
distance
43.684612
seq distance
1314
chain
B
In BRGDA1; dbSNP:rs199473289.
original residue
A
variation residue
V
position
1649
score
100.0
distance
43.684612
seq distance
1314
chain
B
In LQT3; dbSNP:rs199473330.
original residue
A
variation residue
S
position
1649
score
54.54545454545454
distance
43.684612
seq distance
1314
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473278.
original residue
F
variation residue
I
position
1596
score
100.0
distance
43.773052
seq distance
1261
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473278.
original residue
F
variation residue
I
position
1596
score
100.0
distance
43.773052
seq distance
1261
chain
B
In BRGDA1; dbSNP:rs199473239.
original residue
V
variation residue
L
position
1405
score
100.0
distance
43.9806
seq distance
1070
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473239.
original residue
V
variation residue
M
position
1405
score
100.0
distance
43.9806
seq distance
1070
chain
B
In BRGDA1; dbSNP:rs199473239.
original residue
V
variation residue
L
position
1405
score
100.0
distance
43.9806
seq distance
1070
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473239.
original residue
V
variation residue
M
position
1405
score
100.0
distance
43.9806
seq distance
1070
chain
B
In LQT3; dbSNP:rs199473287.
original residue
R
variation residue
C
position
1644
score
100.0
distance
44.113235
seq distance
1309
chain
B
In LQT3; dbSNP:rs28937316.
original residue
R
variation residue
H
position
1644
score
100.0
distance
44.113235
seq distance
1309
chain
B
In LQT3; dbSNP:rs199473287.
original residue
R
variation residue
C
position
1644
score
100.0
distance
44.113235
seq distance
1309
chain
B
In LQT3; dbSNP:rs28937316.
original residue
R
variation residue
H
position
1644
score
100.0
distance
44.113235
seq distance
1309
chain
B
In LQT3; dbSNP:rs199473291.
original residue
M
variation residue
R
position
1652
score
100.0
distance
44.131527
seq distance
1317
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473291.
original residue
M
variation residue
T
position
1652
score
100.0
distance
44.131527
seq distance
1317
chain
B
In LQT3; dbSNP:rs199473291.
original residue
M
variation residue
R
position
1652
score
100.0
distance
44.131527
seq distance
1317
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473291.
original residue
M
variation residue
T
position
1652
score
100.0
distance
44.131527
seq distance
1317
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473233.
original residue
V
variation residue
M
position
1353
score
100.0
distance
44.430428
seq distance
1018
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473233.
original residue
V
variation residue
M
position
1353
score
100.0
distance
44.430428
seq distance
1018
chain
B
In BRGDA1; dbSNP:rs199473608.
original residue
S
variation residue
I
position
1382
score
100.0
distance
44.57913
seq distance
1047
chain
B
In BRGDA1; dbSNP:rs199473608.
original residue
S
variation residue
I
position
1382
score
100.0
distance
44.57913
seq distance
1047
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473247.
original residue
G
variation residue
V
position
1433
score
100.0
distance
44.75721
seq distance
1098
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473247.
original residue
G
variation residue
V
position
1433
score
100.0
distance
44.75721
seq distance
1098
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473614.
original residue
N
variation residue
Y
position
1463
score
100.0
distance
44.830837
seq distance
1128
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473614.
original residue
N
variation residue
Y
position
1463
score
100.0
distance
44.830837
seq distance
1128
chain
B
In LQT3; dbSNP:rs199473615.
original residue
F
variation residue
L
position
1486
score
100.0
distance
44.940052
seq distance
1151
chain
B
In LQT3; dbSNP:rs199473615.
original residue
F
variation residue
L
position
1486
score
100.0
distance
44.940052
seq distance
1151
chain
B
In LQT3; dbSNP:rs72549410.
original residue
V
variation residue
M
position
411
score
100.0
distance
45.0827
seq distance
76
chain
B
In LQT3; dbSNP:rs72549410.
original residue
V
variation residue
M
position
411
score
100.0
distance
45.0827
seq distance
76
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473227.
original residue
L
variation residue
V
position
1338
score
100.0
distance
45.18392
seq distance
1003
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473227.
original residue
L
variation residue
V
position
1338
score
100.0
distance
45.18392
seq distance
1003
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473624.
original residue
G
variation residue
E
position
1642
score
100.0
distance
45.46468
seq distance
1307
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473624.
original residue
G
variation residue
E
position
1642
score
100.0
distance
45.46468
seq distance
1307
chain
B
In BRGDA1; dbSNP:rs199473586.
original residue
F
variation residue
L
position
851
score
100.0
distance
45.530224
seq distance
516
chain
B
In BRGDA1; dbSNP:rs199473586.
original residue
F
variation residue
L
position
851
score
100.0
distance
45.530224
seq distance
516
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473276.
original residue
I
variation residue
M
position
1593
score
100.0
distance
45.88676
seq distance
1258
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473276.
original residue
I
variation residue
M
position
1593
score
100.0
distance
45.88676
seq distance
1258
chain
B
In LQT3; dbSNP:rs199473288.
original residue
T
variation residue
M
position
1645
score
100.0
distance
45.997345
seq distance
1310
chain
B
In LQT3; dbSNP:rs199473288.
original residue
T
variation residue
M
position
1645
score
100.0
distance
45.997345
seq distance
1310
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473078.
original residue
V
variation residue
L
position
247
score
100.0
distance
46.039925
seq distance
79
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473078.
original residue
V
variation residue
L
position
247
score
100.0
distance
46.039925
seq distance
79
chain
B
In dbSNP:rs41313697.
original residue
L
variation residue
V
position
1286
score
54.54545454545454
distance
46.081867
seq distance
951
chain
B
In dbSNP:rs41313697.
original residue
L
variation residue
V
position
1286
score
54.54545454545454
distance
46.081867
seq distance
951
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473226.
original residue
I
variation residue
V
position
1334
score
100.0
distance
46.218754
seq distance
999
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473226.
original residue
I
variation residue
V
position
1334
score
100.0
distance
46.218754
seq distance
999
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473230.
original residue
L
variation residue
I
position
1346
score
100.0
distance
46.65447
seq distance
1011
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473231.
original residue
L
variation residue
P
position
1346
score
100.0
distance
46.65447
seq distance
1011
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473230.
original residue
L
variation residue
I
position
1346
score
100.0
distance
46.65447
seq distance
1011
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473231.
original residue
L
variation residue
P
position
1346
score
100.0
distance
46.65447
seq distance
1011
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473258.
original residue
M
variation residue
L
position
1487
score
100.0
distance
46.741776
seq distance
1152
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473258.
original residue
M
variation residue
L
position
1487
score
100.0
distance
46.741776
seq distance
1152
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473232.
original residue
M
variation residue
R
position
1351
score
100.0
distance
46.790928
seq distance
1016
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473232.
original residue
M
variation residue
R
position
1351
score
100.0
distance
46.790928
seq distance
1016
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473222.
original residue
A
variation residue
S
position
1326
score
100.0
distance
46.838753
seq distance
991
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473222.
original residue
A
variation residue
S
position
1326
score
100.0
distance
46.838753
seq distance
991
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473179.
original residue
L
variation residue
P
position
935
score
100.0
distance
46.869267
seq distance
600
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473179.
original residue
L
variation residue
P
position
935
score
100.0
distance
46.869267
seq distance
600
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473569.
original residue
A
variation residue
E
position
413
score
100.0
distance
47.09047
seq distance
78
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473110.
original residue
A
variation residue
T
position
413
score
100.0
distance
47.09047
seq distance
78
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473569.
original residue
A
variation residue
E
position
413
score
100.0
distance
47.09047
seq distance
78
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473110.
original residue
A
variation residue
T
position
413
score
100.0
distance
47.09047
seq distance
78
chain
B
In SSS1 and BRGDA1; dbSNP:rs45620037.
original residue
T
variation residue
I
position
220
score
100.0
distance
47.399445
seq distance
106
chain
B
In SSS1 and BRGDA1; dbSNP:rs45620037.
original residue
T
variation residue
I
position
220
score
100.0
distance
47.399445
seq distance
106
chain
B
In CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials; dbSNP:rs137854618.
original residue
D
variation residue
N
position
1275
score
100.0
distance
47.446995
seq distance
940
chain
B
In CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials; dbSNP:rs137854618.
original residue
D
variation residue
N
position
1275
score
100.0
distance
47.446995
seq distance
940
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473217.
original residue
A
variation residue
G
position
1288
score
100.0
distance
47.561214
seq distance
953
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473217.
original residue
A
variation residue
G
position
1288
score
100.0
distance
47.561214
seq distance
953
chain
B
In LQT3; dbSNP:rs28937317.
original residue
N
variation residue
S
position
1325
score
100.0
distance
47.569202
seq distance
990
chain
B
In LQT3; dbSNP:rs28937317.
original residue
N
variation residue
S
position
1325
score
100.0
distance
47.569202
seq distance
990
chain
B
Rare variant found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41276525.
original residue
S
variation residue
L
position
216
score
100.0
distance
47.685474
seq distance
110
chain
B
Rare variant found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41276525.
original residue
S
variation residue
L
position
216
score
100.0
distance
47.685474
seq distance
110
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs41311127.
original residue
F
variation residue
S
position
1293
score
100.0
distance
47.720097
seq distance
958
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs41311127.
original residue
F
variation residue
S
position
1293
score
100.0
distance
47.720097
seq distance
958
chain
B
In LQT3; drug-induced LQT syndrome; dbSNP:rs45589741.
original residue
F
variation residue
L
position
1250
score
100.0
distance
47.756645
seq distance
915
chain
B
In LQT3; drug-induced LQT syndrome; dbSNP:rs45589741.
original residue
F
variation residue
L
position
1250
score
100.0
distance
47.756645
seq distance
915
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473228.
original residue
F
variation residue
L
position
1344
score
100.0
distance
47.759502
seq distance
1009
chain
B
In BRGDA1; dbSNP:rs199473229.
original residue
F
variation residue
S
position
1344
score
100.0
distance
47.759502
seq distance
1009
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473228.
original residue
F
variation residue
L
position
1344
score
100.0
distance
47.759502
seq distance
1009
chain
B
In BRGDA1; dbSNP:rs199473229.
original residue
F
variation residue
S
position
1344
score
100.0
distance
47.759502
seq distance
1009
chain
B
In dbSNP:rs199473191.
original residue
V
variation residue
L
position
1284
score
50.0
distance
47.787
seq distance
949
chain
B
In dbSNP:rs199473191.
original residue
V
variation residue
L
position
1284
score
50.0
distance
47.787
seq distance
949
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473259.
original residue
T
variation residue
R
position
1488
score
100.0
distance
47.7967
seq distance
1153
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473259.
original residue
T
variation residue
R
position
1488
score
100.0
distance
47.7967
seq distance
1153
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473216.
original residue
L
variation residue
M
position
1283
score
100.0
distance
48.023643
seq distance
948
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473216.
original residue
L
variation residue
M
position
1283
score
100.0
distance
48.023643
seq distance
948
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473213.
original residue
V
variation residue
D
position
1249
score
100.0
distance
48.17994
seq distance
914
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473213.
original residue
V
variation residue
D
position
1249
score
100.0
distance
48.17994
seq distance
914
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
P
position
1330
score
100.0
distance
48.23347
seq distance
995
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
T
position
1330
score
100.0
distance
48.23347
seq distance
995
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
P
position
1330
score
100.0
distance
48.23347
seq distance
995
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
T
position
1330
score
100.0
distance
48.23347
seq distance
995
chain
B
In LQT3; dbSNP:rs199473321.
original residue
D
variation residue
G
position
1280
score
50.0
distance
48.597652
seq distance
945
chain
B
In LQT3; dbSNP:rs199473321.
original residue
D
variation residue
G
position
1280
score
50.0
distance
48.597652
seq distance
945
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473620.
original residue
E
variation residue
K
position
1574
score
100.0
distance
48.658936
seq distance
1239
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473620.
original residue
E
variation residue
K
position
1574
score
100.0
distance
48.658936
seq distance
1239
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473254.
original residue
V
variation residue
F
position
1468
score
100.0
distance
48.821896
seq distance
1133
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41315493.
original residue
V
variation residue
L
position
1468
score
54.54545454545454
distance
48.821896
seq distance
1133
chain
B
In ATFB10; dbSNP:rs41315493.
original residue
V
variation residue
M
position
1468
score
54.54545454545454
distance
48.821896
seq distance
1133
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473254.
original residue
V
variation residue
F
position
1468
score
100.0
distance
48.821896
seq distance
1133
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41315493.
original residue
V
variation residue
L
position
1468
score
54.54545454545454
distance
48.821896
seq distance
1133
chain
B
In ATFB10; dbSNP:rs41315493.
original residue
V
variation residue
M
position
1468
score
54.54545454545454
distance
48.821896
seq distance
1133
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473166.
original residue
I
variation residue
F
position
848
score
100.0
distance
48.853485
seq distance
513
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473166.
original residue
I
variation residue
F
position
848
score
100.0
distance
48.853485
seq distance
513
chain
B
In LQT3; dbSNP:rs199473256.
original residue
F
variation residue
C
position
1473
score
100.0
distance
49.268112
seq distance
1138
chain
B
In LQT3; dbSNP:rs199473256.
original residue
F
variation residue
C
position
1473
score
100.0
distance
49.268112
seq distance
1138
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473618.
original residue
V
variation residue
I
position
1532
score
100.0
distance
49.366554
seq distance
1197
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473618.
original residue
V
variation residue
I
position
1532
score
100.0
distance
49.366554
seq distance
1197
chain
B
In BRGDA1; dbSNP:rs199473261.
original residue
Y
variation residue
N
position
1494
score
100.0
distance
49.62694
seq distance
1159
chain
B
In BRGDA1; dbSNP:rs199473261.
original residue
Y
variation residue
N
position
1494
score
100.0
distance
49.62694
seq distance
1159
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473052.
original residue
F
variation residue
S
position
221
score
50.0
distance
49.661697
seq distance
105
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473052.
original residue
F
variation residue
S
position
221
score
50.0
distance
49.661697
seq distance
105
chain
B
Found in a patient with long QT syndrome; unknown pathological significance; dbSNP:rs199473263.
original residue
M
variation residue
T
position
1498
score
100.0
distance
49.722687
seq distance
1163
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473264.
original residue
M
variation residue
V
position
1498
score
100.0
distance
49.722687
seq distance
1163
chain
B
Found in a patient with long QT syndrome; unknown pathological significance; dbSNP:rs199473263.
original residue
M
variation residue
T
position
1498
score
100.0
distance
49.722687
seq distance
1163
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473264.
original residue
M
variation residue
V
position
1498
score
100.0
distance
49.722687
seq distance
1163
chain
B
In LQT3 and SIDS; dbSNP:rs199473604.
original residue
S
variation residue
Y
position
1333
score
100.0
distance
49.767307
seq distance
998
chain
B
In LQT3 and SIDS; dbSNP:rs199473604.
original residue
S
variation residue
Y
position
1333
score
100.0
distance
49.767307
seq distance
998
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473262.
original residue
Y
variation residue
S
position
1495
score
100.0
distance
49.844715
seq distance
1160
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473262.
original residue
Y
variation residue
S
position
1495
score
100.0
distance
49.844715
seq distance
1160
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473601.
original residue
W
variation residue
C
position
1271
score
100.0
distance
49.92669
seq distance
936
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473601.
original residue
W
variation residue
C
position
1271
score
100.0
distance
49.92669
seq distance
936
chain
B
In LQT3; dbSNP:rs199473314.
original residue
V
variation residue
M
position
1777
score
90.9090909090909
distance
49.986492
seq distance
1442
chain
B
In LQT3; dbSNP:rs199473314.
original residue
V
variation residue
M
position
1777
score
90.9090909090909
distance
49.986492
seq distance
1442
chain
B
In BRGDA1; dbSNP:rs137854611.
original residue
A
variation residue
E
position
735
score
100.0
distance
50.125553
seq distance
400
chain
B
In BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs137854611.
original residue
A
variation residue
V
position
735
score
100.0
distance
50.125553
seq distance
400
chain
B
In BRGDA1; dbSNP:rs137854611.
original residue
A
variation residue
E
position
735
score
100.0
distance
50.125553
seq distance
400
chain
B
In BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs137854611.
original residue
A
variation residue
V
position
735
score
100.0
distance
50.125553
seq distance
400
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473560.
original residue
V
variation residue
L
position
223
score
100.0
distance
50.178925
seq distance
103
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473560.
original residue
V
variation residue
L
position
223
score
100.0
distance
50.178925
seq distance
103
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473225.
original residue
P
variation residue
L
position
1332
score
100.0
distance
50.523525
seq distance
997
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473225.
original residue
P
variation residue
L
position
1332
score
100.0
distance
50.523525
seq distance
997
chain
B
In dbSNP:rs199473600.
original residue
V
variation residue
M
position
1251
score
100.0
distance
50.57101
seq distance
916
chain
B
In dbSNP:rs199473600.
original residue
V
variation residue
M
position
1251
score
100.0
distance
50.57101
seq distance
916
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473255.
original residue
N
variation residue
S
position
1472
score
100.0
distance
50.825798
seq distance
1137
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473255.
original residue
N
variation residue
S
position
1472
score
100.0
distance
50.825798
seq distance
1137
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473616.
original residue
E
variation residue
D
position
1489
score
100.0
distance
51.26707
seq distance
1154
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473616.
original residue
E
variation residue
D
position
1489
score
100.0
distance
51.26707
seq distance
1154
chain
B
In LQT3; dbSNP:rs199473077.
original residue
Q
variation residue
K
position
245
score
100.0
distance
51.552704
seq distance
81
chain
B
In LQT3; dbSNP:rs199473077.
original residue
Q
variation residue
K
position
245
score
100.0
distance
51.552704
seq distance
81
chain
B
In BRGDA1; dbSNP:rs199473267.
original residue
G
variation residue
S
position
1502
score
100.0
distance
51.634228
seq distance
1167
chain
B
In BRGDA1; dbSNP:rs199473267.
original residue
G
variation residue
S
position
1502
score
100.0
distance
51.634228
seq distance
1167
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473266.
original residue
L
variation residue
V
position
1501
score
100.0
distance
51.764523
seq distance
1166
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473266.
original residue
L
variation residue
V
position
1501
score
100.0
distance
51.764523
seq distance
1166
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473214.
original residue
E
variation residue
G
position
1253
score
100.0
distance
51.76543
seq distance
918
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473214.
original residue
E
variation residue
G
position
1253
score
100.0
distance
51.76543
seq distance
918
chain
B
In BRGDA1 and LQT3; dbSNP:rs45546039.
original residue
R
variation residue
Q
position
222
score
100.0
distance
52.112328
seq distance
104
chain
B
In BRGDA1 and LQT3; dbSNP:rs45546039.
original residue
R
variation residue
Q
position
222
score
100.0
distance
52.112328
seq distance
104
chain
B
Phosphoserine
position
805
score
59.09090909090909
distance
52.22574
seq distance
470
chain
B
Phosphoserine
position
805
score
59.09090909090909
distance
52.22574
seq distance
470
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473076.
original residue
V
variation residue
M
position
240
score
100.0
distance
52.34473
seq distance
86
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473076.
original residue
V
variation residue
M
position
240
score
100.0
distance
52.34473
seq distance
86
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473260.
original residue
K
variation residue
R
position
1493
score
100.0
distance
52.53044
seq distance
1158
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473260.
original residue
K
variation residue
R
position
1493
score
100.0
distance
52.53044
seq distance
1158
chain
B
In BRGDA1; dbSNP:rs199473561.
original residue
A
variation residue
V
position
226
score
100.0
distance
52.54999
seq distance
100
chain
B
In BRGDA1; dbSNP:rs199473561.
original residue
A
variation residue
V
position
226
score
100.0
distance
52.54999
seq distance
100
chain
B
Induces accelerated recovery from channel fast inactivation.
original residue
Q
variation residue
K
position
1476
score
100.0
distance
53.11651
seq distance
1141
chain
B
Induces accelerated recovery from channel fast inactivation.
original residue
Q
variation residue
K
position
1476
score
100.0
distance
53.11651
seq distance
1141
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473061.
original residue
V
variation residue
M
position
146
score
100.0
distance
53.33192
seq distance
180
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473061.
original residue
V
variation residue
M
position
146
score
100.0
distance
53.33192
seq distance
180
chain
B
In LQT3; also in SIDS; dbSNP:rs137854605.
original residue
S
variation residue
N
position
941
score
81.81818181818183
distance
53.738148
seq distance
606
chain
B
In LQT3; also in SIDS; dbSNP:rs137854605.
original residue
S
variation residue
N
position
941
score
81.81818181818183
distance
53.738148
seq distance
606
chain
B
In LQT3; dbSNP:rs199473070.
original residue
L
variation residue
P
position
212
score
100.0
distance
54.141964
seq distance
114
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473070.
original residue
L
variation residue
Q
position
212
score
100.0
distance
54.141964
seq distance
114
chain
B
In LQT3; dbSNP:rs199473070.
original residue
L
variation residue
P
position
212
score
100.0
distance
54.141964
seq distance
114
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473070.
original residue
L
variation residue
Q
position
212
score
100.0
distance
54.141964
seq distance
114
chain
B
In dbSNP:rs199473265.
original residue
K
variation residue
N
position
1500
score
100.0
distance
54.248222
seq distance
1165
chain
B
In BRGDA1.
original residue
variation residue
position
1500
score
100.0
distance
54.248222
seq distance
1165
chain
B
In dbSNP:rs199473265.
original residue
K
variation residue
N
position
1500
score
100.0
distance
54.248222
seq distance
1165
chain
B
In BRGDA1.
original residue
variation residue
position
1500
score
100.0
distance
54.248222
seq distance
1165
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473634.
original residue
T
variation residue
M
position
1779
score
72.72727272727273
distance
54.283936
seq distance
1444
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473634.
original residue
T
variation residue
M
position
1779
score
72.72727272727273
distance
54.283936
seq distance
1444
chain
B
Phosphoserine; by PKC
position
1503
score
100.0
distance
54.300266
seq distance
1168
chain
B
Phosphoserine; by PKC
position
1503
score
100.0
distance
54.300266
seq distance
1168
chain
B
In LQT3; dbSNP:rs199473071.
original residue
R
variation residue
Q
position
225
score
100.0
distance
54.405403
seq distance
101
chain
B
In PFHB1A, BRGDA1 and LQT3; dbSNP:rs199473072.
original residue
R
variation residue
W
position
225
score
100.0
distance
54.405403
seq distance
101
chain
B
In LQT3; dbSNP:rs199473071.
original residue
R
variation residue
Q
position
225
score
100.0
distance
54.405403
seq distance
101
chain
B
In PFHB1A, BRGDA1 and LQT3; dbSNP:rs199473072.
original residue
R
variation residue
W
position
225
score
100.0
distance
54.405403
seq distance
101
chain
B
In BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no domiFalset negative effect.
original residue
L
variation residue
Q
position
812
score
100.0
distance
54.470226
seq distance
477
chain
B
In BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no domiFalset negative effect.
original residue
L
variation residue
Q
position
812
score
100.0
distance
54.470226
seq distance
477
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473164.
original residue
L
variation residue
P
position
839
score
100.0
distance
54.769592
seq distance
504
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473164.
original residue
L
variation residue
P
position
839
score
100.0
distance
54.769592
seq distance
504
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473150.
original residue
T
variation residue
I
position
731
score
100.0
distance
54.81137
seq distance
396
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473150.
original residue
T
variation residue
I
position
731
score
100.0
distance
54.81137
seq distance
396
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473160.
original residue
R
variation residue
P
position
808
score
100.0
distance
54.95168
seq distance
473
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473160.
original residue
R
variation residue
P
position
808
score
100.0
distance
54.95168
seq distance
473
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473056.
original residue
N
variation residue
K
position
1269
score
54.54545454545454
distance
55.323296
seq distance
934
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473056.
original residue
N
variation residue
K
position
1269
score
54.54545454545454
distance
55.323296
seq distance
934
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473269.
original residue
V
variation residue
M
position
1525
score
100.0
distance
55.51993
seq distance
1190
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473269.
original residue
V
variation residue
M
position
1525
score
100.0
distance
55.51993
seq distance
1190
chain
B
In BRGDA1; dbSNP:rs199473074.
original residue
I
variation residue
V
position
230
score
100.0
distance
55.756462
seq distance
96
chain
B
In BRGDA1; dbSNP:rs199473074.
original residue
I
variation residue
V
position
230
score
100.0
distance
55.756462
seq distance
96
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473582.
original residue
E
variation residue
K
position
746
score
100.0
distance
56.25401
seq distance
411
chain
B
In dbSNP:rs199473193.
original residue
E
variation residue
K
position
746
score
50.0
distance
56.25401
seq distance
411
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473582.
original residue
E
variation residue
K
position
746
score
100.0
distance
56.25401
seq distance
411
chain
B
In dbSNP:rs199473193.
original residue
E
variation residue
K
position
746
score
50.0
distance
56.25401
seq distance
411
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473162.
original residue
F
variation residue
Y
position
816
score
100.0
distance
56.420433
seq distance
481
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473162.
original residue
F
variation residue
Y
position
816
score
100.0
distance
56.420433
seq distance
481
chain
B
In LQT3.
original residue
variation residue
begin
1505
end
1507
score
100.0
distance
56.528343
seq distance
1170
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473268.
original residue
K
variation residue
N
position
1505
score
100.0
distance
56.528343
seq distance
1170
chain
B
In LQT3.
original residue
variation residue
begin
1505
end
1507
score
100.0
distance
56.528343
seq distance
1170
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473268.
original residue
K
variation residue
N
position
1505
score
100.0
distance
56.528343
seq distance
1170
chain
B
In BRGDA1; asymptomatic patient; associated with P-1569; dbSNP:rs199473270.
original residue
K
variation residue
R
position
1527
score
100.0
distance
57.221706
seq distance
1192
chain
B
In BRGDA1; asymptomatic patient; associated with P-1569; dbSNP:rs199473270.
original residue
K
variation residue
R
position
1527
score
100.0
distance
57.221706
seq distance
1192
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473275.
original residue
L
variation residue
P
position
1582
score
100.0
distance
57.38566
seq distance
1247
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473275.
original residue
L
variation residue
P
position
1582
score
100.0
distance
57.38566
seq distance
1247
chain
B
In BRGDA1.
original residue
variation residue
position
1479
score
100.0
distance
57.804085
seq distance
1144
chain
B
In BRGDA1.
original residue
variation residue
position
1479
score
100.0
distance
57.804085
seq distance
1144
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45514691.
original residue
R
variation residue
C
position
1583
score
100.0
distance
57.877666
seq distance
1248
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473621.
original residue
R
variation residue
H
position
1583
score
100.0
distance
57.877666
seq distance
1248
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45514691.
original residue
R
variation residue
C
position
1583
score
100.0
distance
57.877666
seq distance
1248
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473621.
original residue
R
variation residue
H
position
1583
score
100.0
distance
57.877666
seq distance
1248
chain
B
In BRGDA1; dbSNP:rs199473584.
original residue
R
variation residue
Q
position
814
score
100.0
distance
57.89799
seq distance
479
chain
B
In BRGDA1; dbSNP:rs199473584.
original residue
R
variation residue
Q
position
814
score
100.0
distance
57.89799
seq distance
479
chain
B
In LQT3; dbSNP:rs199473257.
original residue
G
variation residue
E
position
1481
score
100.0
distance
58.172985
seq distance
1146
chain
B
In LQT3; dbSNP:rs199473257.
original residue
G
variation residue
E
position
1481
score
100.0
distance
58.172985
seq distance
1146
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473559.
original residue
A
variation residue
V
position
204
score
100.0
distance
58.638607
seq distance
122
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473559.
original residue
A
variation residue
V
position
204
score
100.0
distance
58.638607
seq distance
122
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473617.
original residue
I
variation residue
K
position
1521
score
100.0
distance
59.514576
seq distance
1186
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473617.
original residue
I
variation residue
K
position
1521
score
100.0
distance
59.514576
seq distance
1186
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473062.
original residue
E
variation residue
K
position
161
score
100.0
distance
59.649845
seq distance
165
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473062.
original residue
E
variation residue
Q
position
161
score
100.0
distance
59.649845
seq distance
165
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473062.
original residue
E
variation residue
K
position
161
score
100.0
distance
59.649845
seq distance
165
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473062.
original residue
E
variation residue
Q
position
161
score
100.0
distance
59.649845
seq distance
165
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473152.
original residue
Q
variation residue
R
position
750
score
100.0
distance
59.988472
seq distance
415
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473152.
original residue
Q
variation residue
R
position
750
score
100.0
distance
59.988472
seq distance
415
chain
B
In BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation.
original residue
K
variation residue
E
position
817
score
100.0
distance
60.00431
seq distance
482
chain
B
In BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation.
original residue
K
variation residue
E
position
817
score
100.0
distance
60.00431
seq distance
482
chain
B
In LQT3.
original residue
variation residue
begin
1507
end
1509
score
100.0
distance
60.332863
seq distance
1172
chain
B
In LQT3.
original residue
variation residue
begin
1507
end
1509
score
100.0
distance
60.332863
seq distance
1172
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45471994.
original residue
V
variation residue
I
position
232
score
100.0
distance
60.97488
seq distance
94
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45471994.
original residue
V
variation residue
I
position
232
score
100.0
distance
60.97488
seq distance
94
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473202.
original residue
Y
variation residue
S
position
1199
score
100.0
distance
61.424248
seq distance
864
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473202.
original residue
Y
variation residue
S
position
1199
score
100.0
distance
61.424248
seq distance
864
chain
B
In ATFB10; dbSNP:rs199473060.
original residue
M
variation residue
I
position
138
score
100.0
distance
61.60899
seq distance
188
chain
B
In ATFB10; dbSNP:rs199473060.
original residue
M
variation residue
I
position
138
score
100.0
distance
61.60899
seq distance
188
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473153.
original residue
G
variation residue
R
position
752
score
100.0
distance
61.763546
seq distance
417
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473153.
original residue
G
variation residue
R
position
752
score
100.0
distance
61.763546
seq distance
417
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs137854616.
original residue
G
variation residue
S
position
1262
score
100.0
distance
62.779644
seq distance
927
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs137854616.
original residue
G
variation residue
S
position
1262
score
100.0
distance
62.779644
seq distance
927
chain
B
In BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke; dbSNP:rs137854602.
original residue
R
variation residue
W
position
1512
score
100.0
distance
64.79114
seq distance
1177
chain
B
In BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke; dbSNP:rs137854602.
original residue
R
variation residue
W
position
1512
score
100.0
distance
64.79114
seq distance
1177
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473159.
original residue
V
variation residue
I
position
789
score
100.0
distance
65.509605
seq distance
454
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473159.
original residue
V
variation residue
I
position
789
score
100.0
distance
65.509605
seq distance
454
chain
B
In dbSNP:rs199473125.
original residue
R
variation residue
H
position
1195
score
50.0
distance
66.15478
seq distance
860
chain
B
In dbSNP:rs199473125.
original residue
R
variation residue
H
position
1195
score
50.0
distance
66.15478
seq distance
860
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473557.
original residue
L
variation residue
P
position
136
score
100.0
distance
66.492294
seq distance
190
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473557.
original residue
L
variation residue
P
position
136
score
100.0
distance
66.492294
seq distance
190
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs137854606.
original residue
G
variation residue
C
position
797
score
50.0
distance
67.11338
seq distance
462
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs137854606.
original residue
G
variation residue
C
position
797
score
50.0
distance
67.11338
seq distance
462
chain
B
In BRGDA1; dbSNP:rs199473124.
original residue
L
variation residue
Q
position
1194
score
50.0
distance
67.72309
seq distance
859
chain
B
In BRGDA1; dbSNP:rs199473124.
original residue
L
variation residue
Q
position
1194
score
50.0
distance
67.72309
seq distance
859
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473154.
original residue
G
variation residue
E
position
758
score
100.0
distance
68.66973
seq distance
423
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473154.
original residue
G
variation residue
E
position
758
score
100.0
distance
68.66973
seq distance
423
chain
B
In ATFB10; dbSNP:rs199473111.
original residue
E
variation residue
K
position
428
score
63.63636363636363
distance
68.81146
seq distance
93
chain
B
In ATFB10; dbSNP:rs199473111.
original residue
E
variation residue
K
position
428
score
63.63636363636363
distance
68.81146
seq distance
93
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473067.
original residue
A
variation residue
V
position
185
score
100.0
distance
68.81276
seq distance
141
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473067.
original residue
A
variation residue
V
position
185
score
100.0
distance
68.81276
seq distance
141
chain
B
In BRGDA1; loss of function; dbSNP:rs199473558.
original residue
T
variation residue
I
position
187
score
100.0
distance
69.60797
seq distance
139
chain
B
In BRGDA1; loss of function; dbSNP:rs199473558.
original residue
T
variation residue
I
position
187
score
100.0
distance
69.60797
seq distance
139
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473063.
original residue
K
variation residue
N
position
175
score
100.0
distance
69.76257
seq distance
151
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473063.
original residue
K
variation residue
N
position
175
score
100.0
distance
69.76257
seq distance
151
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
G
position
1193
score
50.0
distance
70.43898
seq distance
858
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473554.
original residue
R
variation residue
Q
position
1193
score
50.0
distance
70.43898
seq distance
858
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
W
position
1193
score
50.0
distance
70.43898
seq distance
858
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344.
original residue
R
variation residue
Q
position
1193
score
100.0
distance
70.43898
seq distance
858
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
G
position
1193
score
50.0
distance
70.43898
seq distance
858
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473554.
original residue
R
variation residue
Q
position
1193
score
50.0
distance
70.43898
seq distance
858
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
W
position
1193
score
50.0
distance
70.43898
seq distance
858
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344.
original residue
R
variation residue
Q
position
1193
score
100.0
distance
70.43898
seq distance
858
chain
B
In LQT3; unknown pathological significance; dbSNP:rs761375502.
original residue
variation residue
position
429
score
54.54545454545454
distance
70.9856
seq distance
94
chain
B
In LQT3; unknown pathological significance; dbSNP:rs761375502.
original residue
variation residue
position
429
score
54.54545454545454
distance
70.9856
seq distance
94
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473156.
original residue
M
variation residue
R
position
764
score
100.0
distance
71.71071
seq distance
429
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473156.
original residue
M
variation residue
R
position
764
score
100.0
distance
71.71071
seq distance
429
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473149.
original residue
P
variation residue
L
position
717
score
100.0
distance
73.12178
seq distance
382
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473149.
original residue
P
variation residue
L
position
717
score
100.0
distance
73.12178
seq distance
382
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473066.
original residue
C
variation residue
R
position
182
score
100.0
distance
73.73755
seq distance
144
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473066.
original residue
C
variation residue
R
position
182
score
100.0
distance
73.73755
seq distance
144
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473065.
original residue
A
variation residue
G
position
178
score
100.0
distance
74.61852
seq distance
148
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473065.
original residue
A
variation residue
G
position
178
score
100.0
distance
74.61852
seq distance
148
chain
B
In LQT3; dbSNP:rs199473059.
original residue
V
variation residue
L
position
125
score
100.0
distance
76.56432
seq distance
201
chain
B
In LQT3; dbSNP:rs199473059.
original residue
V
variation residue
L
position
125
score
100.0
distance
76.56432
seq distance
201
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473158.
original residue
P
variation residue
S
position
773
score
100.0
distance
78.08275
seq distance
438
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473158.
original residue
P
variation residue
S
position
773
score
100.0
distance
78.08275
seq distance
438
chain
B
In BRGDA1; dbSNP:rs185492581.
original residue
K
variation residue
E
position
126
score
100.0
distance
78.10061
seq distance
200
chain
B
In BRGDA1; dbSNP:rs185492581.
original residue
K
variation residue
E
position
126
score
100.0
distance
78.10061
seq distance
200
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473058.
original residue
R
variation residue
Q
position
121
score
72.72727272727273
distance
79.93364
seq distance
205
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473556.
original residue
R
variation residue
W
position
121
score
72.72727272727273
distance
79.93364
seq distance
205
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473058.
original residue
R
variation residue
Q
position
121
score
72.72727272727273
distance
79.93364
seq distance
205
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473556.
original residue
R
variation residue
W
position
121
score
72.72727272727273
distance
79.93364
seq distance
205
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473157.
original residue
D
variation residue
N
position
772
score
100.0
distance
80.96598
seq distance
437
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473157.
original residue
D
variation residue
N
position
772
score
100.0
distance
80.96598
seq distance
437
chain
B
In dbSNP:rs199473148.
original residue
S
variation residue
F
position
705
score
100.0
distance
90.13786
seq distance
370
chain
B
In dbSNP:rs199473148.
original residue
S
variation residue
F
position
705
score
100.0
distance
90.13786
seq distance
370
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473147.
original residue
P
variation residue
L
position
701
score
72.72727272727273
distance
94.50587
seq distance
366
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473147.
original residue
P
variation residue
L
position
701
score
72.72727272727273
distance
94.50587
seq distance
366
chain
B

Details

Redox score
73.33
PDB code
6lqa
Structure name
voltage-gated sodium channel nav1.5 with quinidine
Structure deposition date
2020-01-13
Thiol separation (Å)
3.5
Half-sphere exposure sum
69
Minimum pKa
nan
% buried
nan
Peptide accession
Q14524
Residue number A
326
Residue number B
335
Peptide name
Sodium channel protein type 5 subunit alpha
A redox-regulated disulphide may form within Sodium channel protein type 5 subunit alpha at these cysteines.

Relevent regions

In BRGDA1; unknown pathological significance; dbSNP:rs199473092.
original residue
L
variation residue
R
position
325
score
100.0
distance
3.788655
seq distance
10
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473092.
original residue
L
variation residue
R
position
325
score
100.0
distance
3.788655
seq distance
10
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473094.
original residue
R
variation residue
W
position
340
score
100.0
distance
3.9224007
seq distance
5
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473094.
original residue
R
variation residue
W
position
340
score
100.0
distance
3.9224007
seq distance
5
chain
B
In BRGDA1; severe reduction of sodium currents; dbSNP:rs199473093.
original residue
P
variation residue
L
position
336
score
100.0
distance
6.094577
seq distance
1
chain
B
In BRGDA1; severe reduction of sodium currents; dbSNP:rs199473093.
original residue
P
variation residue
L
position
336
score
100.0
distance
6.094577
seq distance
1
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473562.
original residue
H
variation residue
D
position
278
score
100.0
distance
6.380157
seq distance
2
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473562.
original residue
H
variation residue
D
position
278
score
100.0
distance
6.380157
seq distance
2
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473564.
original residue
L
variation residue
P
position
315
score
100.0
distance
6.619106
seq distance
20
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473564.
original residue
L
variation residue
P
position
315
score
100.0
distance
6.619106
seq distance
20
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473082.
original residue
R
variation residue
C
position
282
score
100.0
distance
8.049608
seq distance
2
chain
B
In BRGDA1; dbSNP:rs199473083.
original residue
R
variation residue
H
position
282
score
100.0
distance
8.049608
seq distance
2
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473082.
original residue
R
variation residue
C
position
282
score
100.0
distance
8.049608
seq distance
2
chain
B
In BRGDA1; dbSNP:rs199473083.
original residue
R
variation residue
H
position
282
score
100.0
distance
8.049608
seq distance
2
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473081.
original residue
L
variation residue
Q
position
276
score
100.0
distance
10.594569
seq distance
4
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473081.
original residue
L
variation residue
Q
position
276
score
100.0
distance
10.594569
seq distance
4
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473080.
original residue
N
variation residue
K
position
275
score
100.0
distance
12.262706
seq distance
5
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473080.
original residue
N
variation residue
K
position
275
score
100.0
distance
12.262706
seq distance
5
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473567.
original residue
G
variation residue
E
position
386
score
100.0
distance
12.833084
seq distance
51
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473102.
original residue
G
variation residue
R
position
386
score
100.0
distance
12.833084
seq distance
51
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473567.
original residue
G
variation residue
E
position
386
score
100.0
distance
12.833084
seq distance
51
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473102.
original residue
G
variation residue
R
position
386
score
100.0
distance
12.833084
seq distance
51
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; no effect on voltage dependence for activation and inactivation; dbSNP:rs1060499900.
original residue
D
variation residue
N
position
1690
score
100.0
distance
12.92171
seq distance
1355
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; no effect on voltage dependence for activation and inactivation; dbSNP:rs1060499900.
original residue
D
variation residue
N
position
1690
score
100.0
distance
12.92171
seq distance
1355
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473091.
original residue
T
variation residue
N
position
320
score
100.0
distance
14.376233
seq distance
15
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473091.
original residue
T
variation residue
N
position
320
score
100.0
distance
14.376233
seq distance
15
chain
B
In LQT3; dbSNP:rs199473043.
original residue
G
variation residue
V
position
319
score
50.0
distance
15.405404
seq distance
16
chain
B
In BRGDA1; dbSNP:rs199473090.
original residue
G
variation residue
S
position
319
score
100.0
distance
15.405404
seq distance
16
chain
B
In LQT3; dbSNP:rs199473043.
original residue
G
variation residue
V
position
319
score
50.0
distance
15.405404
seq distance
16
chain
B
In BRGDA1; dbSNP:rs199473090.
original residue
G
variation residue
S
position
319
score
100.0
distance
15.405404
seq distance
16
chain
B
In dbSNP:rs199473100.
original residue
R
variation residue
C
position
376
score
100.0
distance
15.895377
seq distance
41
chain
B
In BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation; dbSNP:rs199473101.
original residue
R
variation residue
H
position
376
score
100.0
distance
15.895377
seq distance
41
chain
B
In dbSNP:rs199473100.
original residue
R
variation residue
C
position
376
score
100.0
distance
15.895377
seq distance
41
chain
B
In BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation; dbSNP:rs199473101.
original residue
R
variation residue
H
position
376
score
100.0
distance
15.895377
seq distance
41
chain
B
In BRGDA1; dbSNP:rs199473096.
original residue
T
variation residue
I
position
353
score
100.0
distance
16.708687
seq distance
18
chain
B
In BRGDA1; dbSNP:rs199473096.
original residue
T
variation residue
I
position
353
score
100.0
distance
16.708687
seq distance
18
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473095.
original residue
G
variation residue
D
position
351
score
100.0
distance
16.998611
seq distance
16
chain
B
In BRGDA1; 7-fold current reduction; dbSNP:rs199473095.
original residue
G
variation residue
V
position
351
score
100.0
distance
16.998611
seq distance
16
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473095.
original residue
G
variation residue
D
position
351
score
100.0
distance
16.998611
seq distance
16
chain
B
In BRGDA1; 7-fold current reduction; dbSNP:rs199473095.
original residue
G
variation residue
V
position
351
score
100.0
distance
16.998611
seq distance
16
chain
B
In LQT3 and BRGDA1.
original residue
variation residue
position
1617
score
100.0
distance
18.217173
seq distance
1282
chain
B
In LQT3 and BRGDA1.
original residue
variation residue
position
1617
score
100.0
distance
18.217173
seq distance
1282
chain
B
In PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance; dbSNP:rs137854608.
original residue
G
variation residue
S
position
298
score
100.0
distance
18.466393
seq distance
18
chain
B
In PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance; dbSNP:rs137854608.
original residue
G
variation residue
S
position
298
score
100.0
distance
18.466393
seq distance
18
chain
B
In dbSNP:rs61746118.
original residue
A
variation residue
S
position
286
score
100.0
distance
18.678001
seq distance
6
chain
B
In dbSNP:rs61746118.
original residue
A
variation residue
S
position
286
score
100.0
distance
18.678001
seq distance
6
chain
B
In BRGDA1; loss of function; dbSNP:rs199473565.
original residue
D
variation residue
N
position
356
score
100.0
distance
18.74988
seq distance
21
chain
B
In BRGDA1; loss of function; dbSNP:rs199473565.
original residue
D
variation residue
N
position
356
score
100.0
distance
18.74988
seq distance
21
chain
B
In LQT3 and PFHB1A; dbSNP:rs199473282.
original residue
T
variation residue
K
position
1620
score
100.0
distance
18.90724
seq distance
1285
chain
B
In BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range; dbSNP:rs199473282.
original residue
T
variation residue
M
position
1620
score
100.0
distance
18.90724
seq distance
1285
chain
B
In LQT3 and PFHB1A; dbSNP:rs199473282.
original residue
T
variation residue
K
position
1620
score
100.0
distance
18.90724
seq distance
1285
chain
B
In BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range; dbSNP:rs199473282.
original residue
T
variation residue
M
position
1620
score
100.0
distance
18.90724
seq distance
1285
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473566.
original residue
W
variation residue
G
position
374
score
100.0
distance
20.122639
seq distance
39
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473566.
original residue
W
variation residue
G
position
374
score
100.0
distance
20.122639
seq distance
39
chain
B
In dbSNP:rs199473087.
original residue
L
variation residue
M
position
299
score
100.0
distance
20.282423
seq distance
19
chain
B
In dbSNP:rs199473087.
original residue
L
variation residue
M
position
299
score
100.0
distance
20.282423
seq distance
19
chain
B
In BRGDA1; dbSNP:rs199473086.
original residue
V
variation residue
M
position
294
score
100.0
distance
20.874195
seq distance
14
chain
B
In BRGDA1; dbSNP:rs199473086.
original residue
V
variation residue
M
position
294
score
100.0
distance
20.874195
seq distance
14
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473088.
original residue
V
variation residue
I
position
300
score
100.0
distance
21.369577
seq distance
20
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473088.
original residue
V
variation residue
I
position
300
score
100.0
distance
21.369577
seq distance
20
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473295.
original residue
A
variation residue
T
position
1698
score
100.0
distance
21.430147
seq distance
1363
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473295.
original residue
A
variation residue
T
position
1698
score
100.0
distance
21.430147
seq distance
1363
chain
B
In BRGDA1.
original residue
variation residue
position
393
score
100.0
distance
21.990515
seq distance
58
chain
B
In BRGDA1.
original residue
variation residue
position
393
score
100.0
distance
21.990515
seq distance
58
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473079.
original residue
Q
variation residue
K
position
270
score
100.0
distance
22.33044
seq distance
10
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473079.
original residue
Q
variation residue
K
position
270
score
100.0
distance
22.33044
seq distance
10
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473298.
original residue
G
variation residue
S
position
1712
score
100.0
distance
22.874136
seq distance
1377
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473298.
original residue
G
variation residue
S
position
1712
score
100.0
distance
22.874136
seq distance
1377
chain
B
In LQT3; dbSNP:rs137854600.
original residue
R
variation residue
L
position
1623
score
100.0
distance
22.880398
seq distance
1288
chain
B
In LQT3 and BRGDA1; dbSNP:rs137854600.
original residue
R
variation residue
Q
position
1623
score
100.0
distance
22.880398
seq distance
1288
chain
B
In LQT3; dbSNP:rs137854600.
original residue
R
variation residue
L
position
1623
score
100.0
distance
22.880398
seq distance
1288
chain
B
In LQT3 and BRGDA1; dbSNP:rs137854600.
original residue
R
variation residue
Q
position
1623
score
100.0
distance
22.880398
seq distance
1288
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473174.
original residue
E
variation residue
K
position
901
score
100.0
distance
23.239117
seq distance
566
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473174.
original residue
E
variation residue
K
position
901
score
100.0
distance
23.239117
seq distance
566
chain
B
In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation; dbSNP:rs199473627.
original residue
F
variation residue
S
position
1705
score
100.0
distance
24.11631
seq distance
1370
chain
B
In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation; dbSNP:rs199473627.
original residue
F
variation residue
S
position
1705
score
100.0
distance
24.11631
seq distance
1370
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473205.
original residue
Y
variation residue
H
position
1228
score
100.0
distance
24.133749
seq distance
893
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473205.
original residue
Y
variation residue
H
position
1228
score
100.0
distance
24.133749
seq distance
893
chain
B
In BRGDA1 and LQT3; express no current; dbSNP:rs199473097.
original residue
R
variation residue
C
position
367
score
100.0
distance
24.476326
seq distance
32
chain
B
In BRGDA1; express no current; dbSNP:rs28937318.
original residue
R
variation residue
H
position
367
score
100.0
distance
24.476326
seq distance
32
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs28937318.
original residue
R
variation residue
L
position
367
score
100.0
distance
24.476326
seq distance
32
chain
B
In BRGDA1 and LQT3; express no current; dbSNP:rs199473097.
original residue
R
variation residue
C
position
367
score
100.0
distance
24.476326
seq distance
32
chain
B
In BRGDA1; express no current; dbSNP:rs28937318.
original residue
R
variation residue
H
position
367
score
100.0
distance
24.476326
seq distance
32
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs28937318.
original residue
R
variation residue
L
position
367
score
100.0
distance
24.476326
seq distance
32
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473294.
original residue
A
variation residue
T
position
1680
score
100.0
distance
24.59479
seq distance
1345
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473294.
original residue
A
variation residue
T
position
1680
score
100.0
distance
24.59479
seq distance
1345
chain
B
In BRGDA1; strong decrease of current density; does not affect ion selectivity properties; dbSNP:rs199473628.
original residue
D
variation residue
G
position
1714
score
100.0
distance
25.249023
seq distance
1379
chain
B
In BRGDA1; strong decrease of current density; does not affect ion selectivity properties; dbSNP:rs199473628.
original residue
D
variation residue
G
position
1714
score
100.0
distance
25.249023
seq distance
1379
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473271.
original residue
E
variation residue
K
position
1548
score
100.0
distance
25.78972
seq distance
1213
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473271.
original residue
E
variation residue
K
position
1548
score
100.0
distance
25.78972
seq distance
1213
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473302.
original residue
C
variation residue
R
position
1728
score
100.0
distance
26.061073
seq distance
1393
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs193922726.
original residue
C
variation residue
W
position
1728
score
100.0
distance
26.061073
seq distance
1393
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473302.
original residue
C
variation residue
R
position
1728
score
100.0
distance
26.061073
seq distance
1393
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs193922726.
original residue
C
variation residue
W
position
1728
score
100.0
distance
26.061073
seq distance
1393
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473103.
original residue
V
variation residue
A
position
396
score
100.0
distance
26.258654
seq distance
61
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473104.
original residue
V
variation residue
L
position
396
score
100.0
distance
26.258654
seq distance
61
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473103.
original residue
V
variation residue
A
position
396
score
100.0
distance
26.258654
seq distance
61
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473104.
original residue
V
variation residue
L
position
396
score
100.0
distance
26.258654
seq distance
61
chain
B
In dbSNP:rs45553235.
original residue
Q
variation residue
K
position
1613
score
50.0
distance
26.319195
seq distance
1278
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473281.
original residue
Q
variation residue
L
position
1613
score
100.0
distance
26.319195
seq distance
1278
chain
B
In dbSNP:rs45553235.
original residue
Q
variation residue
K
position
1613
score
50.0
distance
26.319195
seq distance
1278
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473281.
original residue
Q
variation residue
L
position
1613
score
100.0
distance
26.319195
seq distance
1278
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473084.
original residue
G
variation residue
S
position
289
score
100.0
distance
26.469728
seq distance
9
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473084.
original residue
G
variation residue
S
position
289
score
100.0
distance
26.469728
seq distance
9
chain
B
In LQT3; dbSNP:rs199473598.
original residue
E
variation residue
K
position
1231
score
100.0
distance
26.561085
seq distance
896
chain
B
In LQT3; dbSNP:rs199473598.
original residue
E
variation residue
K
position
1231
score
100.0
distance
26.561085
seq distance
896
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473105.
original residue
I
variation residue
T
position
397
score
100.0
distance
26.596914
seq distance
62
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473105.
original residue
I
variation residue
T
position
397
score
100.0
distance
26.596914
seq distance
62
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473611.
original residue
G
variation residue
R
position
1420
score
100.0
distance
27.074898
seq distance
1085
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473611.
original residue
G
variation residue
R
position
1420
score
100.0
distance
27.074898
seq distance
1085
chain
B
In BRGDA1; dbSNP:rs199473098.
original residue
M
variation residue
K
position
369
score
100.0
distance
27.370256
seq distance
34
chain
B
In BRGDA1; dbSNP:rs199473098.
original residue
M
variation residue
K
position
369
score
100.0
distance
27.370256
seq distance
34
chain
B
4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
original residue
K
variation residue
A
position
1614
score
100.0
distance
27.403576
seq distance
1279
chain
B
4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
original residue
K
variation residue
A
position
1614
score
100.0
distance
27.403576
seq distance
1279
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
H
position
1626
score
100.0
distance
27.410442
seq distance
1291
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
P
position
1626
score
100.0
distance
27.410442
seq distance
1291
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
H
position
1626
score
100.0
distance
27.410442
seq distance
1291
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
P
position
1626
score
100.0
distance
27.410442
seq distance
1291
chain
B
In dbSNP:rs199473563.
original residue
N
variation residue
S
position
291
score
100.0
distance
27.61075
seq distance
11
chain
B
In dbSNP:rs199473563.
original residue
N
variation residue
S
position
291
score
100.0
distance
27.61075
seq distance
11
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473242.
original residue
K
variation residue
E
position
1419
score
100.0
distance
27.655905
seq distance
1084
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473242.
original residue
K
variation residue
E
position
1419
score
100.0
distance
27.655905
seq distance
1084
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
M
position
1709
score
100.0
distance
27.70311
seq distance
1374
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
R
position
1709
score
100.0
distance
27.70311
seq distance
1374
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
M
position
1709
score
100.0
distance
27.70311
seq distance
1374
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
R
position
1709
score
100.0
distance
27.70311
seq distance
1374
chain
B
In VF1; dbSNP:rs137854604.
original residue
S
variation residue
L
position
1710
score
100.0
distance
27.83312
seq distance
1375
chain
B
In VF1; dbSNP:rs137854604.
original residue
S
variation residue
L
position
1710
score
100.0
distance
27.83312
seq distance
1375
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473206.
original residue
R
variation residue
Q
position
1232
score
100.0
distance
27.961409
seq distance
897
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473207.
original residue
R
variation residue
W
position
1232
score
100.0
distance
27.961409
seq distance
897
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473206.
original residue
R
variation residue
Q
position
1232
score
100.0
distance
27.961409
seq distance
897
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473207.
original residue
R
variation residue
W
position
1232
score
100.0
distance
27.961409
seq distance
897
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473626.
original residue
S
variation residue
Y
position
1672
score
100.0
distance
28.060966
seq distance
1337
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473626.
original residue
S
variation residue
Y
position
1672
score
100.0
distance
28.060966
seq distance
1337
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473099.
original residue
T
variation residue
M
position
370
score
100.0
distance
28.43889
seq distance
35
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473099.
original residue
T
variation residue
M
position
370
score
100.0
distance
28.43889
seq distance
35
chain
B
In BRGDA1; dbSNP:rs199473629.
original residue
G
variation residue
E
position
1743
score
100.0
distance
28.51697
seq distance
1408
chain
B
In BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells; dbSNP:rs199473305.
original residue
G
variation residue
R
position
1743
score
100.0
distance
28.51697
seq distance
1408
chain
B
In BRGDA1; dbSNP:rs199473629.
original residue
G
variation residue
E
position
1743
score
100.0
distance
28.51697
seq distance
1408
chain
B
In BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells; dbSNP:rs199473305.
original residue
G
variation residue
R
position
1743
score
100.0
distance
28.51697
seq distance
1408
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473299.
original residue
N
variation residue
D
position
1722
score
100.0
distance
28.628529
seq distance
1387
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473299.
original residue
N
variation residue
D
position
1722
score
100.0
distance
28.628529
seq distance
1387
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473204.
original residue
E
variation residue
K
position
1225
score
100.0
distance
29.829353
seq distance
890
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473204.
original residue
E
variation residue
K
position
1225
score
100.0
distance
29.829353
seq distance
890
chain
B
In BRGDA1; dbSNP:rs199473168.
original residue
R
variation residue
C
position
878
score
100.0
distance
29.88833
seq distance
543
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473587.
original residue
R
variation residue
H
position
878
score
100.0
distance
29.88833
seq distance
543
chain
B
In BRGDA1; dbSNP:rs199473168.
original residue
R
variation residue
C
position
878
score
100.0
distance
29.88833
seq distance
543
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473587.
original residue
R
variation residue
H
position
878
score
100.0
distance
29.88833
seq distance
543
chain
B
In BRGDA1; dbSNP:rs199473304.
original residue
G
variation residue
R
position
1740
score
100.0
distance
29.98775
seq distance
1405
chain
B
In BRGDA1; dbSNP:rs199473304.
original residue
G
variation residue
R
position
1740
score
100.0
distance
29.98775
seq distance
1405
chain
B
In LQT3; dbSNP:rs199473622.
original residue
S
variation residue
W
position
1609
score
100.0
distance
30.100546
seq distance
1274
chain
B
In LQT3; dbSNP:rs199473622.
original residue
S
variation residue
W
position
1609
score
100.0
distance
30.100546
seq distance
1274
chain
B
In BRGDA1; dbSNP:rs199473175.
original residue
S
variation residue
L
position
910
score
100.0
distance
30.872282
seq distance
575
chain
B
In BRGDA1; dbSNP:rs199473175.
original residue
S
variation residue
L
position
910
score
100.0
distance
30.872282
seq distance
575
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; changed voltage dependence for activation and inactivation.
original residue
G
variation residue
D
position
1748
score
100.0
distance
31.01741
seq distance
1413
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; changed voltage dependence for activation and inactivation.
original residue
G
variation residue
D
position
1748
score
100.0
distance
31.01741
seq distance
1413
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473588.
original residue
C
variation residue
R
position
915
score
100.0
distance
31.077032
seq distance
580
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473588.
original residue
C
variation residue
R
position
915
score
100.0
distance
31.077032
seq distance
580
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473300.
original residue
T
variation residue
N
position
1723
score
100.0
distance
31.258228
seq distance
1388
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473300.
original residue
T
variation residue
N
position
1723
score
100.0
distance
31.258228
seq distance
1388
chain
B
Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
original residue
D
variation residue
A
position
1610
score
100.0
distance
31.364725
seq distance
1275
chain
B
High decrease in affinity to the sea anemone toxin anthopleurin-B.
original residue
D
variation residue
R
position
1610
score
100.0
distance
31.364725
seq distance
1275
chain
B
Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
original residue
D
variation residue
A
position
1610
score
100.0
distance
31.364725
seq distance
1275
chain
B
High decrease in affinity to the sea anemone toxin anthopleurin-B.
original residue
D
variation residue
R
position
1610
score
100.0
distance
31.364725
seq distance
1275
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473303.
original residue
R
variation residue
W
position
1739
score
100.0
distance
31.706297
seq distance
1404
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473303.
original residue
R
variation residue
W
position
1739
score
100.0
distance
31.706297
seq distance
1404
chain
B
In LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation; dbSNP:rs794728898.
original residue
H
variation residue
R
position
880
score
50.0
distance
31.877497
seq distance
545
chain
B
In LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation; dbSNP:rs794728898.
original residue
H
variation residue
R
position
880
score
50.0
distance
31.877497
seq distance
545
chain
B
Phosphoserine
position
1744
score
50.0
distance
31.979414
seq distance
1409
chain
B
Phosphoserine
position
1744
score
50.0
distance
31.979414
seq distance
1409
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473619.
original residue
L
variation residue
F
position
1560
score
100.0
distance
32.22413
seq distance
1225
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473619.
original residue
L
variation residue
F
position
1560
score
100.0
distance
32.22413
seq distance
1225
chain
B
In BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation; dbSNP:rs199473180.
original residue
R
variation residue
C
position
1629
score
59.09090909090909
distance
32.27484
seq distance
1294
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
H
position
1629
score
59.09090909090909
distance
32.27484
seq distance
1294
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
L
position
1629
score
59.09090909090909
distance
32.27484
seq distance
1294
chain
B
In BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation; dbSNP:rs199473623.
original residue
R
variation residue
Q
position
1629
score
100.0
distance
32.27484
seq distance
1294
chain
B
In BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation; dbSNP:rs199473180.
original residue
R
variation residue
C
position
1629
score
59.09090909090909
distance
32.27484
seq distance
1294
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
H
position
1629
score
59.09090909090909
distance
32.27484
seq distance
1294
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
L
position
1629
score
59.09090909090909
distance
32.27484
seq distance
1294
chain
B
In BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation; dbSNP:rs199473623.
original residue
R
variation residue
Q
position
1629
score
100.0
distance
32.27484
seq distance
1294
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473171.
original residue
R
variation residue
C
position
893
score
100.0
distance
32.538803
seq distance
558
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473172.
original residue
R
variation residue
H
position
893
score
100.0
distance
32.538803
seq distance
558
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473171.
original residue
R
variation residue
C
position
893
score
100.0
distance
32.538803
seq distance
558
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473172.
original residue
R
variation residue
H
position
893
score
100.0
distance
32.538803
seq distance
558
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473244.
original residue
A
variation residue
S
position
1427
score
100.0
distance
32.929943
seq distance
1092
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473244.
original residue
A
variation residue
S
position
1427
score
100.0
distance
32.929943
seq distance
1092
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473167.
original residue
E
variation residue
Q
position
867
score
100.0
distance
33.382317
seq distance
532
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473167.
original residue
E
variation residue
Q
position
867
score
100.0
distance
33.382317
seq distance
532
chain
B
In BRGDA1; dbSNP:rs199473208.
original residue
K
variation residue
N
position
1236
score
100.0
distance
33.499195
seq distance
901
chain
B
In BRGDA1; dbSNP:rs199473208.
original residue
K
variation residue
N
position
1236
score
100.0
distance
33.499195
seq distance
901
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473237.
original residue
C
variation residue
Y
position
1363
score
100.0
distance
33.542088
seq distance
1028
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473237.
original residue
C
variation residue
Y
position
1363
score
100.0
distance
33.542088
seq distance
1028
chain
B
In BRGDA1; dbSNP:rs199473173.
original residue
C
variation residue
S
position
896
score
100.0
distance
33.618484
seq distance
561
chain
B
In BRGDA1; dbSNP:rs199473173.
original residue
C
variation residue
S
position
896
score
100.0
distance
33.618484
seq distance
561
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473176.
original residue
L
variation residue
R
position
917
score
100.0
distance
33.915443
seq distance
582
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473176.
original residue
L
variation residue
R
position
917
score
100.0
distance
33.915443
seq distance
582
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473293.
original residue
V
variation residue
I
position
1667
score
100.0
distance
34.1233
seq distance
1332
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473293.
original residue
V
variation residue
I
position
1667
score
100.0
distance
34.1233
seq distance
1332
chain
B
In LQT3; dbSNP:rs199473107.
original residue
L
variation residue
Q
position
404
score
100.0
distance
34.74219
seq distance
69
chain
B
In LQT3; dbSNP:rs199473107.
original residue
L
variation residue
Q
position
404
score
100.0
distance
34.74219
seq distance
69
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473292.
original residue
G
variation residue
R
position
1661
score
100.0
distance
35.23658
seq distance
1326
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473292.
original residue
G
variation residue
R
position
1661
score
100.0
distance
35.23658
seq distance
1326
chain
B
In LQT3; dbSNP:rs199473631.
original residue
V
variation residue
M
position
1763
score
100.0
distance
35.482605
seq distance
1428
chain
B
In LQT3; dbSNP:rs199473631.
original residue
V
variation residue
M
position
1763
score
100.0
distance
35.482605
seq distance
1428
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473280.
original residue
V
variation residue
M
position
1604
score
100.0
distance
35.98666
seq distance
1269
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473280.
original residue
V
variation residue
M
position
1604
score
100.0
distance
35.98666
seq distance
1269
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473236.
original residue
F
variation residue
C
position
1360
score
100.0
distance
36.03274
seq distance
1025
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473236.
original residue
F
variation residue
C
position
1360
score
100.0
distance
36.03274
seq distance
1025
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473248.
original residue
P
variation residue
L
position
1438
score
100.0
distance
36.172783
seq distance
1103
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473248.
original residue
P
variation residue
L
position
1438
score
100.0
distance
36.172783
seq distance
1103
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473612.
original residue
A
variation residue
V
position
1428
score
100.0
distance
36.214596
seq distance
1093
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473612.
original residue
A
variation residue
V
position
1428
score
100.0
distance
36.214596
seq distance
1093
chain
B
In BRGDA1; dbSNP:rs199473170.
original residue
F
variation residue
I
position
892
score
100.0
distance
36.263836
seq distance
557
chain
B
In BRGDA1; dbSNP:rs199473170.
original residue
F
variation residue
I
position
892
score
100.0
distance
36.263836
seq distance
557
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473210.
original residue
L
variation residue
P
position
1239
score
100.0
distance
36.734013
seq distance
904
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473210.
original residue
L
variation residue
P
position
1239
score
100.0
distance
36.734013
seq distance
904
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473169.
original residue
H
variation residue
P
position
886
score
100.0
distance
36.738018
seq distance
551
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473169.
original residue
H
variation residue
P
position
886
score
100.0
distance
36.738018
seq distance
551
chain
B
In dbSNP:rs199473177.
original residue
V
variation residue
I
position
924
score
100.0
distance
37.01226
seq distance
589
chain
B
In dbSNP:rs199473177.
original residue
V
variation residue
I
position
924
score
100.0
distance
37.01226
seq distance
589
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473241.
original residue
L
variation residue
F
position
1412
score
100.0
distance
37.021538
seq distance
1077
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473241.
original residue
L
variation residue
F
position
1412
score
100.0
distance
37.021538
seq distance
1077
chain
B
In LQT3; dbSNP:rs199473603.
original residue
T
variation residue
M
position
1304
score
100.0
distance
37.05527
seq distance
969
chain
B
In LQT3; dbSNP:rs199473603.
original residue
T
variation residue
M
position
1304
score
100.0
distance
37.05527
seq distance
969
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473597.
original residue
S
variation residue
N
position
1219
score
100.0
distance
37.07615
seq distance
884
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473597.
original residue
S
variation residue
N
position
1219
score
100.0
distance
37.07615
seq distance
884
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473249.
original residue
E
variation residue
Q
position
1441
score
100.0
distance
37.10577
seq distance
1106
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473249.
original residue
E
variation residue
Q
position
1441
score
100.0
distance
37.10577
seq distance
1106
chain
B
In LQT3; dbSNP:rs199473108.
original residue
N
variation residue
K
position
406
score
100.0
distance
37.310143
seq distance
71
chain
B
In BRGDA1; dbSNP:rs199473568.
original residue
N
variation residue
S
position
406
score
100.0
distance
37.310143
seq distance
71
chain
B
In LQT3; dbSNP:rs199473108.
original residue
N
variation residue
K
position
406
score
100.0
distance
37.310143
seq distance
71
chain
B
In BRGDA1; dbSNP:rs199473568.
original residue
N
variation residue
S
position
406
score
100.0
distance
37.310143
seq distance
71
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473589.
original residue
N
variation residue
S
position
927
score
100.0
distance
38.15113
seq distance
592
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473589.
original residue
N
variation residue
S
position
927
score
100.0
distance
38.15113
seq distance
592
chain
B
In BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane; dbSNP:rs199473625.
original residue
I
variation residue
V
position
1660
score
100.0
distance
38.537704
seq distance
1325
chain
B
In BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane; dbSNP:rs199473625.
original residue
I
variation residue
V
position
1660
score
100.0
distance
38.537704
seq distance
1325
chain
B
In LQT3; affects protein trafficking; dbSNP:rs199473310.
original residue
M
variation residue
L
position
1766
score
100.0
distance
38.56853
seq distance
1431
chain
B
In LQT3; affects protein trafficking; dbSNP:rs199473310.
original residue
M
variation residue
L
position
1766
score
100.0
distance
38.56853
seq distance
1431
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473307.
original residue
L
variation residue
F
position
1761
score
100.0
distance
38.678413
seq distance
1426
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473308.
original residue
L
variation residue
H
position
1761
score
100.0
distance
38.678413
seq distance
1426
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473307.
original residue
L
variation residue
F
position
1761
score
100.0
distance
38.678413
seq distance
1426
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473308.
original residue
L
variation residue
H
position
1761
score
100.0
distance
38.678413
seq distance
1426
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473309.
original residue
V
variation residue
F
position
1764
score
100.0
distance
38.869236
seq distance
1429
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473309.
original residue
V
variation residue
F
position
1764
score
100.0
distance
38.869236
seq distance
1429
chain
B
Associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031.
original residue
L
variation residue
F
position
1308
score
100.0
distance
39.05203
seq distance
973
chain
B
Associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031.
original residue
L
variation residue
F
position
1308
score
100.0
distance
39.05203
seq distance
973
chain
B
In SSS1 and BRGDA1; dbSNP:rs137854612.
original residue
G
variation residue
R
position
1408
score
100.0
distance
39.30097
seq distance
1073
chain
B
In SSS1 and BRGDA1; dbSNP:rs137854612.
original residue
G
variation residue
R
position
1408
score
100.0
distance
39.30097
seq distance
1073
chain
B
May confer susceptibility to acquired arrhythmia; dbSNP:rs7626962.
original residue
S
variation residue
Y
position
1218
score
50.0
distance
39.332966
seq distance
883
chain
B
May confer susceptibility to acquired arrhythmia; dbSNP:rs7626962.
original residue
S
variation residue
Y
position
1218
score
50.0
distance
39.332966
seq distance
883
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473610.
original residue
Y
variation residue
C
position
1409
score
100.0
distance
39.348343
seq distance
1074
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473610.
original residue
Y
variation residue
C
position
1409
score
100.0
distance
39.348343
seq distance
1074
chain
B
In dbSNP:rs199473211.
original residue
E
variation residue
Q
position
1240
score
100.0
distance
39.413246
seq distance
905
chain
B
In dbSNP:rs199473211.
original residue
E
variation residue
Q
position
1240
score
100.0
distance
39.413246
seq distance
905
chain
B
In LQT3; dbSNP:rs199473253.
original residue
S
variation residue
Y
position
1458
score
100.0
distance
39.57822
seq distance
1123
chain
B
In LQT3; dbSNP:rs199473253.
original residue
S
variation residue
Y
position
1458
score
100.0
distance
39.57822
seq distance
1123
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473235.
original residue
K
variation residue
N
position
1359
score
100.0
distance
39.673046
seq distance
1024
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473235.
original residue
K
variation residue
N
position
1359
score
100.0
distance
39.673046
seq distance
1024
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473252.
original residue
V
variation residue
D
position
1451
score
100.0
distance
39.89646
seq distance
1116
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473252.
original residue
V
variation residue
D
position
1451
score
100.0
distance
39.89646
seq distance
1116
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473632.
original residue
Y
variation residue
C
position
1767
score
100.0
distance
39.95164
seq distance
1432
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473632.
original residue
Y
variation residue
C
position
1767
score
100.0
distance
39.95164
seq distance
1432
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473290.
original residue
L
variation residue
F
position
1650
score
100.0
distance
40.671326
seq distance
1315
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473290.
original residue
L
variation residue
F
position
1650
score
100.0
distance
40.671326
seq distance
1315
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473109.
original residue
L
variation residue
V
position
409
score
100.0
distance
41.086
seq distance
74
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473109.
original residue
L
variation residue
V
position
409
score
100.0
distance
41.086
seq distance
74
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473178.
original residue
L
variation residue
P
position
928
score
100.0
distance
41.14951
seq distance
593
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473178.
original residue
L
variation residue
P
position
928
score
100.0
distance
41.14951
seq distance
593
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473234.
original residue
G
variation residue
W
position
1358
score
100.0
distance
41.167255
seq distance
1023
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473234.
original residue
G
variation residue
W
position
1358
score
100.0
distance
41.167255
seq distance
1023
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473219.
original residue
L
variation residue
P
position
1311
score
100.0
distance
41.217003
seq distance
976
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473219.
original residue
L
variation residue
P
position
1311
score
100.0
distance
41.217003
seq distance
976
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473599.
original residue
D
variation residue
N
position
1243
score
100.0
distance
41.25761
seq distance
908
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473599.
original residue
D
variation residue
N
position
1243
score
100.0
distance
41.25761
seq distance
908
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473045.
original residue
R
variation residue
H
position
1432
score
54.54545454545454
distance
41.360985
seq distance
1097
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473245.
original residue
R
variation residue
G
position
1432
score
100.0
distance
41.360985
seq distance
1097
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473246.
original residue
R
variation residue
S
position
1432
score
100.0
distance
41.360985
seq distance
1097
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473045.
original residue
R
variation residue
H
position
1432
score
54.54545454545454
distance
41.360985
seq distance
1097
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473245.
original residue
R
variation residue
G
position
1432
score
100.0
distance
41.360985
seq distance
1097
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473246.
original residue
R
variation residue
S
position
1432
score
100.0
distance
41.360985
seq distance
1097
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473609.
original residue
G
variation residue
E
position
1406
score
100.0
distance
41.669132
seq distance
1071
chain
B
In BRGDA1; dbSNP:rs199473240.
original residue
G
variation residue
R
position
1406
score
100.0
distance
41.669132
seq distance
1071
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473609.
original residue
G
variation residue
E
position
1406
score
100.0
distance
41.669132
seq distance
1071
chain
B
In BRGDA1; dbSNP:rs199473240.
original residue
G
variation residue
R
position
1406
score
100.0
distance
41.669132
seq distance
1071
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473250.
original residue
I
variation residue
L
position
1448
score
100.0
distance
41.688766
seq distance
1113
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473251.
original residue
I
variation residue
T
position
1448
score
100.0
distance
41.688766
seq distance
1113
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473250.
original residue
I
variation residue
L
position
1448
score
100.0
distance
41.688766
seq distance
1113
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473251.
original residue
I
variation residue
T
position
1448
score
100.0
distance
41.688766
seq distance
1113
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473613.
original residue
Y
variation residue
C
position
1449
score
100.0
distance
41.902348
seq distance
1114
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473613.
original residue
Y
variation residue
C
position
1449
score
100.0
distance
41.902348
seq distance
1114
chain
B
In BRGDA1; asymptomatic patient; associated with R-1527; dbSNP:rs199473273.
original residue
A
variation residue
P
position
1569
score
100.0
distance
42.967854
seq distance
1234
chain
B
In BRGDA1; asymptomatic patient; associated with R-1527; dbSNP:rs199473273.
original residue
A
variation residue
P
position
1569
score
100.0
distance
42.967854
seq distance
1234
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473277.
original residue
F
variation residue
S
position
1594
score
100.0
distance
42.97506
seq distance
1259
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473277.
original residue
F
variation residue
S
position
1594
score
100.0
distance
42.97506
seq distance
1259
chain
B
In SSS1; dbSNP:rs28937319.
original residue
P
variation residue
L
position
1298
score
100.0
distance
43.43544
seq distance
963
chain
B
In SSS1; dbSNP:rs28937319.
original residue
P
variation residue
L
position
1298
score
100.0
distance
43.43544
seq distance
963
chain
B
In LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve; dbSNP:rs199473311.
original residue
I
variation residue
V
position
1768
score
100.0
distance
43.49577
seq distance
1433
chain
B
In LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve; dbSNP:rs199473311.
original residue
I
variation residue
V
position
1768
score
100.0
distance
43.49577
seq distance
1433
chain
B
In PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3; dbSNP:rs137854607.
original residue
D
variation residue
N
position
1595
score
100.0
distance
43.534992
seq distance
1260
chain
B
In PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3; dbSNP:rs137854607.
original residue
D
variation residue
N
position
1595
score
100.0
distance
43.534992
seq distance
1260
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473274.
original residue
F
variation residue
C
position
1571
score
100.0
distance
43.66689
seq distance
1236
chain
B
In BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest; dbSNP:rs1369632373.
original residue
F
variation residue
L
position
1571
score
100.0
distance
43.66689
seq distance
1236
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473274.
original residue
F
variation residue
C
position
1571
score
100.0
distance
43.66689
seq distance
1236
chain
B
In BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest; dbSNP:rs1369632373.
original residue
F
variation residue
L
position
1571
score
100.0
distance
43.66689
seq distance
1236
chain
B
In BRGDA1; dbSNP:rs199473239.
original residue
V
variation residue
L
position
1405
score
100.0
distance
43.826626
seq distance
1070
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473239.
original residue
V
variation residue
M
position
1405
score
100.0
distance
43.826626
seq distance
1070
chain
B
In BRGDA1; dbSNP:rs199473239.
original residue
V
variation residue
L
position
1405
score
100.0
distance
43.826626
seq distance
1070
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473239.
original residue
V
variation residue
M
position
1405
score
100.0
distance
43.826626
seq distance
1070
chain
B
In BRGDA1; dbSNP:rs199473608.
original residue
S
variation residue
I
position
1382
score
100.0
distance
43.8274
seq distance
1047
chain
B
In BRGDA1; dbSNP:rs199473608.
original residue
S
variation residue
I
position
1382
score
100.0
distance
43.8274
seq distance
1047
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473247.
original residue
G
variation residue
V
position
1433
score
100.0
distance
43.8411
seq distance
1098
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473247.
original residue
G
variation residue
V
position
1433
score
100.0
distance
43.8411
seq distance
1098
chain
B
In LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation; dbSNP:rs199473218.
original residue
E
variation residue
K
position
1295
score
100.0
distance
43.849503
seq distance
960
chain
B
In LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation; dbSNP:rs199473218.
original residue
E
variation residue
K
position
1295
score
100.0
distance
43.849503
seq distance
960
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473233.
original residue
V
variation residue
M
position
1353
score
100.0
distance
43.977108
seq distance
1018
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473233.
original residue
V
variation residue
M
position
1353
score
100.0
distance
43.977108
seq distance
1018
chain
B
In BRGDA1; dbSNP:rs199473289.
original residue
A
variation residue
V
position
1649
score
100.0
distance
44.00723
seq distance
1314
chain
B
In LQT3; dbSNP:rs199473330.
original residue
A
variation residue
S
position
1649
score
54.54545454545454
distance
44.00723
seq distance
1314
chain
B
In BRGDA1; dbSNP:rs199473289.
original residue
A
variation residue
V
position
1649
score
100.0
distance
44.00723
seq distance
1314
chain
B
In LQT3; dbSNP:rs199473330.
original residue
A
variation residue
S
position
1649
score
54.54545454545454
distance
44.00723
seq distance
1314
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473221.
original residue
V
variation residue
G
position
1323
score
100.0
distance
44.089672
seq distance
988
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473221.
original residue
V
variation residue
G
position
1323
score
100.0
distance
44.089672
seq distance
988
chain
B
In LQT3; dbSNP:rs199473287.
original residue
R
variation residue
C
position
1644
score
100.0
distance
44.280277
seq distance
1309
chain
B
In LQT3; dbSNP:rs28937316.
original residue
R
variation residue
H
position
1644
score
100.0
distance
44.280277
seq distance
1309
chain
B
In LQT3; dbSNP:rs199473287.
original residue
R
variation residue
C
position
1644
score
100.0
distance
44.280277
seq distance
1309
chain
B
In LQT3; dbSNP:rs28937316.
original residue
R
variation residue
H
position
1644
score
100.0
distance
44.280277
seq distance
1309
chain
B
In BRGDA1; dbSNP:rs199473586.
original residue
F
variation residue
L
position
851
score
100.0
distance
44.325603
seq distance
516
chain
B
In BRGDA1; dbSNP:rs199473586.
original residue
F
variation residue
L
position
851
score
100.0
distance
44.325603
seq distance
516
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473278.
original residue
F
variation residue
I
position
1596
score
100.0
distance
44.34071
seq distance
1261
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473278.
original residue
F
variation residue
I
position
1596
score
100.0
distance
44.34071
seq distance
1261
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473614.
original residue
N
variation residue
Y
position
1463
score
100.0
distance
44.635357
seq distance
1128
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473614.
original residue
N
variation residue
Y
position
1463
score
100.0
distance
44.635357
seq distance
1128
chain
B
In BRGDA1; dbSNP:rs199473220.
original residue
G
variation residue
V
position
1319
score
100.0
distance
44.683117
seq distance
984
chain
B
In BRGDA1; dbSNP:rs199473220.
original residue
G
variation residue
V
position
1319
score
100.0
distance
44.683117
seq distance
984
chain
B
In LQT3; dbSNP:rs199473291.
original residue
M
variation residue
R
position
1652
score
100.0
distance
44.686874
seq distance
1317
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473291.
original residue
M
variation residue
T
position
1652
score
100.0
distance
44.686874
seq distance
1317
chain
B
In LQT3; dbSNP:rs199473291.
original residue
M
variation residue
R
position
1652
score
100.0
distance
44.686874
seq distance
1317
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473291.
original residue
M
variation residue
T
position
1652
score
100.0
distance
44.686874
seq distance
1317
chain
B
In LQT3; dbSNP:rs72549410.
original residue
V
variation residue
M
position
411
score
100.0
distance
44.91172
seq distance
76
chain
B
In LQT3; dbSNP:rs72549410.
original residue
V
variation residue
M
position
411
score
100.0
distance
44.91172
seq distance
76
chain
B
In LQT3; unknown pathological significance; dbSNP:rs794728920.
original residue
variation residue
position
1212
score
100.0
distance
45.17761
seq distance
877
chain
B
In LQT3; unknown pathological significance; dbSNP:rs794728920.
original residue
variation residue
position
1212
score
100.0
distance
45.17761
seq distance
877
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473227.
original residue
L
variation residue
V
position
1338
score
100.0
distance
45.36057
seq distance
1003
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473227.
original residue
L
variation residue
V
position
1338
score
100.0
distance
45.36057
seq distance
1003
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473624.
original residue
G
variation residue
E
position
1642
score
100.0
distance
45.38722
seq distance
1307
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473624.
original residue
G
variation residue
E
position
1642
score
100.0
distance
45.38722
seq distance
1307
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473078.
original residue
V
variation residue
L
position
247
score
100.0
distance
45.43781
seq distance
33
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473078.
original residue
V
variation residue
L
position
247
score
100.0
distance
45.43781
seq distance
33
chain
B
In LQT3; dbSNP:rs199473615.
original residue
F
variation residue
L
position
1486
score
100.0
distance
45.685875
seq distance
1151
chain
B
In LQT3; dbSNP:rs199473615.
original residue
F
variation residue
L
position
1486
score
100.0
distance
45.685875
seq distance
1151
chain
B
In SSS1 and BRGDA1; dbSNP:rs45620037.
original residue
T
variation residue
I
position
220
score
100.0
distance
45.85888
seq distance
60
chain
B
In SSS1 and BRGDA1; dbSNP:rs45620037.
original residue
T
variation residue
I
position
220
score
100.0
distance
45.85888
seq distance
60
chain
B
Rare variant found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41276525.
original residue
S
variation residue
L
position
216
score
100.0
distance
45.926918
seq distance
64
chain
B
Rare variant found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41276525.
original residue
S
variation residue
L
position
216
score
100.0
distance
45.926918
seq distance
64
chain
B
In LQT3; dbSNP:rs199473288.
original residue
T
variation residue
M
position
1645
score
100.0
distance
46.154896
seq distance
1310
chain
B
In LQT3; dbSNP:rs199473288.
original residue
T
variation residue
M
position
1645
score
100.0
distance
46.154896
seq distance
1310
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473232.
original residue
M
variation residue
R
position
1351
score
100.0
distance
46.271667
seq distance
1016
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473232.
original residue
M
variation residue
R
position
1351
score
100.0
distance
46.271667
seq distance
1016
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473230.
original residue
L
variation residue
I
position
1346
score
100.0
distance
46.46108
seq distance
1011
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473231.
original residue
L
variation residue
P
position
1346
score
100.0
distance
46.46108
seq distance
1011
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473230.
original residue
L
variation residue
I
position
1346
score
100.0
distance
46.46108
seq distance
1011
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473231.
original residue
L
variation residue
P
position
1346
score
100.0
distance
46.46108
seq distance
1011
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473276.
original residue
I
variation residue
M
position
1593
score
100.0
distance
46.51288
seq distance
1258
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473276.
original residue
I
variation residue
M
position
1593
score
100.0
distance
46.51288
seq distance
1258
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473179.
original residue
L
variation residue
P
position
935
score
100.0
distance
46.550426
seq distance
600
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473179.
original residue
L
variation residue
P
position
935
score
100.0
distance
46.550426
seq distance
600
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473226.
original residue
I
variation residue
V
position
1334
score
100.0
distance
46.563362
seq distance
999
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473226.
original residue
I
variation residue
V
position
1334
score
100.0
distance
46.563362
seq distance
999
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473569.
original residue
A
variation residue
E
position
413
score
100.0
distance
46.88426
seq distance
78
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473110.
original residue
A
variation residue
T
position
413
score
100.0
distance
46.88426
seq distance
78
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473569.
original residue
A
variation residue
E
position
413
score
100.0
distance
46.88426
seq distance
78
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473110.
original residue
A
variation residue
T
position
413
score
100.0
distance
46.88426
seq distance
78
chain
B
In dbSNP:rs41313697.
original residue
L
variation residue
V
position
1286
score
54.54545454545454
distance
47.29719
seq distance
951
chain
B
In dbSNP:rs41313697.
original residue
L
variation residue
V
position
1286
score
54.54545454545454
distance
47.29719
seq distance
951
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473222.
original residue
A
variation residue
S
position
1326
score
100.0
distance
47.55523
seq distance
991
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473222.
original residue
A
variation residue
S
position
1326
score
100.0
distance
47.55523
seq distance
991
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473228.
original residue
F
variation residue
L
position
1344
score
100.0
distance
47.562214
seq distance
1009
chain
B
In BRGDA1; dbSNP:rs199473229.
original residue
F
variation residue
S
position
1344
score
100.0
distance
47.562214
seq distance
1009
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473228.
original residue
F
variation residue
L
position
1344
score
100.0
distance
47.562214
seq distance
1009
chain
B
In BRGDA1; dbSNP:rs199473229.
original residue
F
variation residue
S
position
1344
score
100.0
distance
47.562214
seq distance
1009
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473258.
original residue
M
variation residue
L
position
1487
score
100.0
distance
47.567062
seq distance
1152
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473258.
original residue
M
variation residue
L
position
1487
score
100.0
distance
47.567062
seq distance
1152
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473166.
original residue
I
variation residue
F
position
848
score
100.0
distance
47.770863
seq distance
513
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473166.
original residue
I
variation residue
F
position
848
score
100.0
distance
47.770863
seq distance
513
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473052.
original residue
F
variation residue
S
position
221
score
50.0
distance
48.177803
seq distance
59
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473052.
original residue
F
variation residue
S
position
221
score
50.0
distance
48.177803
seq distance
59
chain
B
In LQT3; dbSNP:rs28937317.
original residue
N
variation residue
S
position
1325
score
100.0
distance
48.4194
seq distance
990
chain
B
In LQT3; dbSNP:rs28937317.
original residue
N
variation residue
S
position
1325
score
100.0
distance
48.4194
seq distance
990
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs41311127.
original residue
F
variation residue
S
position
1293
score
100.0
distance
48.529938
seq distance
958
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs41311127.
original residue
F
variation residue
S
position
1293
score
100.0
distance
48.529938
seq distance
958
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473560.
original residue
V
variation residue
L
position
223
score
100.0
distance
48.7525
seq distance
57
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473560.
original residue
V
variation residue
L
position
223
score
100.0
distance
48.7525
seq distance
57
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473217.
original residue
A
variation residue
G
position
1288
score
100.0
distance
48.758114
seq distance
953
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473217.
original residue
A
variation residue
G
position
1288
score
100.0
distance
48.758114
seq distance
953
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473259.
original residue
T
variation residue
R
position
1488
score
100.0
distance
48.75945
seq distance
1153
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473259.
original residue
T
variation residue
R
position
1488
score
100.0
distance
48.75945
seq distance
1153
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
P
position
1330
score
100.0
distance
48.770187
seq distance
995
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
T
position
1330
score
100.0
distance
48.770187
seq distance
995
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
P
position
1330
score
100.0
distance
48.770187
seq distance
995
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
T
position
1330
score
100.0
distance
48.770187
seq distance
995
chain
B
In CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials; dbSNP:rs137854618.
original residue
D
variation residue
N
position
1275
score
100.0
distance
48.778576
seq distance
940
chain
B
In CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials; dbSNP:rs137854618.
original residue
D
variation residue
N
position
1275
score
100.0
distance
48.778576
seq distance
940
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473620.
original residue
E
variation residue
K
position
1574
score
100.0
distance
48.87395
seq distance
1239
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473620.
original residue
E
variation residue
K
position
1574
score
100.0
distance
48.87395
seq distance
1239
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473254.
original residue
V
variation residue
F
position
1468
score
100.0
distance
48.95201
seq distance
1133
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41315493.
original residue
V
variation residue
L
position
1468
score
54.54545454545454
distance
48.95201
seq distance
1133
chain
B
In ATFB10; dbSNP:rs41315493.
original residue
V
variation residue
M
position
1468
score
54.54545454545454
distance
48.95201
seq distance
1133
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473254.
original residue
V
variation residue
F
position
1468
score
100.0
distance
48.95201
seq distance
1133
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41315493.
original residue
V
variation residue
L
position
1468
score
54.54545454545454
distance
48.95201
seq distance
1133
chain
B
In ATFB10; dbSNP:rs41315493.
original residue
V
variation residue
M
position
1468
score
54.54545454545454
distance
48.95201
seq distance
1133
chain
B
In dbSNP:rs199473191.
original residue
V
variation residue
L
position
1284
score
50.0
distance
49.188778
seq distance
949
chain
B
In dbSNP:rs199473191.
original residue
V
variation residue
L
position
1284
score
50.0
distance
49.188778
seq distance
949
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473618.
original residue
V
variation residue
I
position
1532
score
100.0
distance
49.2034
seq distance
1197
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473618.
original residue
V
variation residue
I
position
1532
score
100.0
distance
49.2034
seq distance
1197
chain
B
In LQT3; drug-induced LQT syndrome; dbSNP:rs45589741.
original residue
F
variation residue
L
position
1250
score
100.0
distance
49.264206
seq distance
915
chain
B
In LQT3; drug-induced LQT syndrome; dbSNP:rs45589741.
original residue
F
variation residue
L
position
1250
score
100.0
distance
49.264206
seq distance
915
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473213.
original residue
V
variation residue
D
position
1249
score
100.0
distance
49.445866
seq distance
914
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473213.
original residue
V
variation residue
D
position
1249
score
100.0
distance
49.445866
seq distance
914
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473216.
original residue
L
variation residue
M
position
1283
score
100.0
distance
49.505024
seq distance
948
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473216.
original residue
L
variation residue
M
position
1283
score
100.0
distance
49.505024
seq distance
948
chain
B
In LQT3; dbSNP:rs199473256.
original residue
F
variation residue
C
position
1473
score
100.0
distance
49.67364
seq distance
1138
chain
B
In LQT3; dbSNP:rs199473256.
original residue
F
variation residue
C
position
1473
score
100.0
distance
49.67364
seq distance
1138
chain
B
In LQT3; dbSNP:rs199473321.
original residue
D
variation residue
G
position
1280
score
50.0
distance
49.965305
seq distance
945
chain
B
In LQT3; dbSNP:rs199473321.
original residue
D
variation residue
G
position
1280
score
50.0
distance
49.965305
seq distance
945
chain
B
In BRGDA1; dbSNP:rs137854611.
original residue
A
variation residue
E
position
735
score
100.0
distance
49.971214
seq distance
400
chain
B
In BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs137854611.
original residue
A
variation residue
V
position
735
score
100.0
distance
49.971214
seq distance
400
chain
B
In BRGDA1; dbSNP:rs137854611.
original residue
A
variation residue
E
position
735
score
100.0
distance
49.971214
seq distance
400
chain
B
In BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs137854611.
original residue
A
variation residue
V
position
735
score
100.0
distance
49.971214
seq distance
400
chain
B
In LQT3 and SIDS; dbSNP:rs199473604.
original residue
S
variation residue
Y
position
1333
score
100.0
distance
50.11183
seq distance
998
chain
B
In LQT3 and SIDS; dbSNP:rs199473604.
original residue
S
variation residue
Y
position
1333
score
100.0
distance
50.11183
seq distance
998
chain
B
In LQT3; dbSNP:rs199473314.
original residue
V
variation residue
M
position
1777
score
90.9090909090909
distance
50.23398
seq distance
1442
chain
B
In LQT3; dbSNP:rs199473314.
original residue
V
variation residue
M
position
1777
score
90.9090909090909
distance
50.23398
seq distance
1442
chain
B
Found in a patient with long QT syndrome; unknown pathological significance; dbSNP:rs199473263.
original residue
M
variation residue
T
position
1498
score
100.0
distance
50.421177
seq distance
1163
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473264.
original residue
M
variation residue
V
position
1498
score
100.0
distance
50.421177
seq distance
1163
chain
B
Found in a patient with long QT syndrome; unknown pathological significance; dbSNP:rs199473263.
original residue
M
variation residue
T
position
1498
score
100.0
distance
50.421177
seq distance
1163
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473264.
original residue
M
variation residue
V
position
1498
score
100.0
distance
50.421177
seq distance
1163
chain
B
In BRGDA1; dbSNP:rs199473261.
original residue
Y
variation residue
N
position
1494
score
100.0
distance
50.50152
seq distance
1159
chain
B
In BRGDA1; dbSNP:rs199473261.
original residue
Y
variation residue
N
position
1494
score
100.0
distance
50.50152
seq distance
1159
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473262.
original residue
Y
variation residue
S
position
1495
score
100.0
distance
50.580753
seq distance
1160
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473262.
original residue
Y
variation residue
S
position
1495
score
100.0
distance
50.580753
seq distance
1160
chain
B
In BRGDA1 and LQT3; dbSNP:rs45546039.
original residue
R
variation residue
Q
position
222
score
100.0
distance
50.611923
seq distance
58
chain
B
In BRGDA1 and LQT3; dbSNP:rs45546039.
original residue
R
variation residue
Q
position
222
score
100.0
distance
50.611923
seq distance
58
chain
B
In LQT3; dbSNP:rs199473077.
original residue
Q
variation residue
K
position
245
score
100.0
distance
50.95064
seq distance
35
chain
B
In LQT3; dbSNP:rs199473077.
original residue
Q
variation residue
K
position
245
score
100.0
distance
50.95064
seq distance
35
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473225.
original residue
P
variation residue
L
position
1332
score
100.0
distance
50.99742
seq distance
997
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473225.
original residue
P
variation residue
L
position
1332
score
100.0
distance
50.99742
seq distance
997
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473601.
original residue
W
variation residue
C
position
1271
score
100.0
distance
51.105732
seq distance
936
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473601.
original residue
W
variation residue
C
position
1271
score
100.0
distance
51.105732
seq distance
936
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473255.
original residue
N
variation residue
S
position
1472
score
100.0
distance
51.167355
seq distance
1137
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473255.
original residue
N
variation residue
S
position
1472
score
100.0
distance
51.167355
seq distance
1137
chain
B
In BRGDA1; dbSNP:rs199473561.
original residue
A
variation residue
V
position
226
score
100.0
distance
51.252068
seq distance
54
chain
B
In BRGDA1; dbSNP:rs199473561.
original residue
A
variation residue
V
position
226
score
100.0
distance
51.252068
seq distance
54
chain
B
Phosphoserine
position
805
score
59.09090909090909
distance
51.464153
seq distance
470
chain
B
Phosphoserine
position
805
score
59.09090909090909
distance
51.464153
seq distance
470
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473076.
original residue
V
variation residue
M
position
240
score
100.0
distance
51.508667
seq distance
40
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473076.
original residue
V
variation residue
M
position
240
score
100.0
distance
51.508667
seq distance
40
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473061.
original residue
V
variation residue
M
position
146
score
100.0
distance
51.945812
seq distance
134
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473061.
original residue
V
variation residue
M
position
146
score
100.0
distance
51.945812
seq distance
134
chain
B
In dbSNP:rs199473600.
original residue
V
variation residue
M
position
1251
score
100.0
distance
52.046932
seq distance
916
chain
B
In dbSNP:rs199473600.
original residue
V
variation residue
M
position
1251
score
100.0
distance
52.046932
seq distance
916
chain
B
In BRGDA1; dbSNP:rs199473267.
original residue
G
variation residue
S
position
1502
score
100.0
distance
52.071014
seq distance
1167
chain
B
In BRGDA1; dbSNP:rs199473267.
original residue
G
variation residue
S
position
1502
score
100.0
distance
52.071014
seq distance
1167
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473616.
original residue
E
variation residue
D
position
1489
score
100.0
distance
52.243305
seq distance
1154
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473616.
original residue
E
variation residue
D
position
1489
score
100.0
distance
52.243305
seq distance
1154
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473266.
original residue
L
variation residue
V
position
1501
score
100.0
distance
52.343983
seq distance
1166
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473266.
original residue
L
variation residue
V
position
1501
score
100.0
distance
52.343983
seq distance
1166
chain
B
In LQT3; dbSNP:rs199473070.
original residue
L
variation residue
P
position
212
score
100.0
distance
52.389668
seq distance
68
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473070.
original residue
L
variation residue
Q
position
212
score
100.0
distance
52.389668
seq distance
68
chain
B
In LQT3; dbSNP:rs199473070.
original residue
L
variation residue
P
position
212
score
100.0
distance
52.389668
seq distance
68
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473070.
original residue
L
variation residue
Q
position
212
score
100.0
distance
52.389668
seq distance
68
chain
B
In LQT3; dbSNP:rs199473071.
original residue
R
variation residue
Q
position
225
score
100.0
distance
53.039883
seq distance
55
chain
B
In PFHB1A, BRGDA1 and LQT3; dbSNP:rs199473072.
original residue
R
variation residue
W
position
225
score
100.0
distance
53.039883
seq distance
55
chain
B
In LQT3; dbSNP:rs199473071.
original residue
R
variation residue
Q
position
225
score
100.0
distance
53.039883
seq distance
55
chain
B
In PFHB1A, BRGDA1 and LQT3; dbSNP:rs199473072.
original residue
R
variation residue
W
position
225
score
100.0
distance
53.039883
seq distance
55
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473214.
original residue
E
variation residue
G
position
1253
score
100.0
distance
53.32515
seq distance
918
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473214.
original residue
E
variation residue
G
position
1253
score
100.0
distance
53.32515
seq distance
918
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473260.
original residue
K
variation residue
R
position
1493
score
100.0
distance
53.43308
seq distance
1158
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473260.
original residue
K
variation residue
R
position
1493
score
100.0
distance
53.43308
seq distance
1158
chain
B
In LQT3; also in SIDS; dbSNP:rs137854605.
original residue
S
variation residue
N
position
941
score
81.81818181818183
distance
53.551777
seq distance
606
chain
B
In LQT3; also in SIDS; dbSNP:rs137854605.
original residue
S
variation residue
N
position
941
score
81.81818181818183
distance
53.551777
seq distance
606
chain
B
Induces accelerated recovery from channel fast inactivation.
original residue
Q
variation residue
K
position
1476
score
100.0
distance
53.63217
seq distance
1141
chain
B
Induces accelerated recovery from channel fast inactivation.
original residue
Q
variation residue
K
position
1476
score
100.0
distance
53.63217
seq distance
1141
chain
B
In BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no domiFalset negative effect.
original residue
L
variation residue
Q
position
812
score
100.0
distance
54.039543
seq distance
477
chain
B
In BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no domiFalset negative effect.
original residue
L
variation residue
Q
position
812
score
100.0
distance
54.039543
seq distance
477
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473164.
original residue
L
variation residue
P
position
839
score
100.0
distance
54.17484
seq distance
504
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473164.
original residue
L
variation residue
P
position
839
score
100.0
distance
54.17484
seq distance
504
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473160.
original residue
R
variation residue
P
position
808
score
100.0
distance
54.369537
seq distance
473
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473160.
original residue
R
variation residue
P
position
808
score
100.0
distance
54.369537
seq distance
473
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473634.
original residue
T
variation residue
M
position
1779
score
72.72727272727273
distance
54.41774
seq distance
1444
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473634.
original residue
T
variation residue
M
position
1779
score
72.72727272727273
distance
54.41774
seq distance
1444
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473150.
original residue
T
variation residue
I
position
731
score
100.0
distance
54.649914
seq distance
396
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473150.
original residue
T
variation residue
I
position
731
score
100.0
distance
54.649914
seq distance
396
chain
B
Phosphoserine; by PKC
position
1503
score
100.0
distance
54.6809
seq distance
1168
chain
B
Phosphoserine; by PKC
position
1503
score
100.0
distance
54.6809
seq distance
1168
chain
B
In BRGDA1; dbSNP:rs199473074.
original residue
I
variation residue
V
position
230
score
100.0
distance
54.695374
seq distance
50
chain
B
In BRGDA1; dbSNP:rs199473074.
original residue
I
variation residue
V
position
230
score
100.0
distance
54.695374
seq distance
50
chain
B
In dbSNP:rs199473265.
original residue
K
variation residue
N
position
1500
score
100.0
distance
54.856533
seq distance
1165
chain
B
In BRGDA1.
original residue
variation residue
position
1500
score
100.0
distance
54.856533
seq distance
1165
chain
B
In dbSNP:rs199473265.
original residue
K
variation residue
N
position
1500
score
100.0
distance
54.856533
seq distance
1165
chain
B
In BRGDA1.
original residue
variation residue
position
1500
score
100.0
distance
54.856533
seq distance
1165
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473269.
original residue
V
variation residue
M
position
1525
score
100.0
distance
55.6432
seq distance
1190
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473269.
original residue
V
variation residue
M
position
1525
score
100.0
distance
55.6432
seq distance
1190
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473582.
original residue
E
variation residue
K
position
746
score
100.0
distance
55.925575
seq distance
411
chain
B
In dbSNP:rs199473193.
original residue
E
variation residue
K
position
746
score
50.0
distance
55.925575
seq distance
411
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473582.
original residue
E
variation residue
K
position
746
score
100.0
distance
55.925575
seq distance
411
chain
B
In dbSNP:rs199473193.
original residue
E
variation residue
K
position
746
score
50.0
distance
55.925575
seq distance
411
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473162.
original residue
F
variation residue
Y
position
816
score
100.0
distance
56.137943
seq distance
481
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473162.
original residue
F
variation residue
Y
position
816
score
100.0
distance
56.137943
seq distance
481
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473056.
original residue
N
variation residue
K
position
1269
score
54.54545454545454
distance
56.477066
seq distance
934
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473056.
original residue
N
variation residue
K
position
1269
score
54.54545454545454
distance
56.477066
seq distance
934
chain
B
In LQT3.
original residue
variation residue
begin
1505
end
1507
score
100.0
distance
56.81776
seq distance
1170
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473268.
original residue
K
variation residue
N
position
1505
score
100.0
distance
56.81776
seq distance
1170
chain
B
In LQT3.
original residue
variation residue
begin
1505
end
1507
score
100.0
distance
56.81776
seq distance
1170
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473268.
original residue
K
variation residue
N
position
1505
score
100.0
distance
56.81776
seq distance
1170
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473559.
original residue
A
variation residue
V
position
204
score
100.0
distance
57.06193
seq distance
76
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473559.
original residue
A
variation residue
V
position
204
score
100.0
distance
57.06193
seq distance
76
chain
B
In BRGDA1; asymptomatic patient; associated with P-1569; dbSNP:rs199473270.
original residue
K
variation residue
R
position
1527
score
100.0
distance
57.22243
seq distance
1192
chain
B
In BRGDA1; asymptomatic patient; associated with P-1569; dbSNP:rs199473270.
original residue
K
variation residue
R
position
1527
score
100.0
distance
57.22243
seq distance
1192
chain
B
In BRGDA1; dbSNP:rs199473584.
original residue
R
variation residue
Q
position
814
score
100.0
distance
57.53233
seq distance
479
chain
B
In BRGDA1; dbSNP:rs199473584.
original residue
R
variation residue
Q
position
814
score
100.0
distance
57.53233
seq distance
479
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473275.
original residue
L
variation residue
P
position
1582
score
100.0
distance
57.862072
seq distance
1247
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473275.
original residue
L
variation residue
P
position
1582
score
100.0
distance
57.862072
seq distance
1247
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473062.
original residue
E
variation residue
K
position
161
score
100.0
distance
58.049786
seq distance
119
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473062.
original residue
E
variation residue
Q
position
161
score
100.0
distance
58.049786
seq distance
119
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473062.
original residue
E
variation residue
K
position
161
score
100.0
distance
58.049786
seq distance
119
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473062.
original residue
E
variation residue
Q
position
161
score
100.0
distance
58.049786
seq distance
119
chain
B
In BRGDA1.
original residue
variation residue
position
1479
score
100.0
distance
58.376514
seq distance
1144
chain
B
In BRGDA1.
original residue
variation residue
position
1479
score
100.0
distance
58.376514
seq distance
1144
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45514691.
original residue
R
variation residue
C
position
1583
score
100.0
distance
58.47947
seq distance
1248
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473621.
original residue
R
variation residue
H
position
1583
score
100.0
distance
58.47947
seq distance
1248
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45514691.
original residue
R
variation residue
C
position
1583
score
100.0
distance
58.47947
seq distance
1248
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473621.
original residue
R
variation residue
H
position
1583
score
100.0
distance
58.47947
seq distance
1248
chain
B
In LQT3; dbSNP:rs199473257.
original residue
G
variation residue
E
position
1481
score
100.0
distance
58.87267
seq distance
1146
chain
B
In LQT3; dbSNP:rs199473257.
original residue
G
variation residue
E
position
1481
score
100.0
distance
58.87267
seq distance
1146
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473152.
original residue
Q
variation residue
R
position
750
score
100.0
distance
59.610344
seq distance
415
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473152.
original residue
Q
variation residue
R
position
750
score
100.0
distance
59.610344
seq distance
415
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473617.
original residue
I
variation residue
K
position
1521
score
100.0
distance
59.72178
seq distance
1186
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473617.
original residue
I
variation residue
K
position
1521
score
100.0
distance
59.72178
seq distance
1186
chain
B
In BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation.
original residue
K
variation residue
E
position
817
score
100.0
distance
59.757595
seq distance
482
chain
B
In BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation.
original residue
K
variation residue
E
position
817
score
100.0
distance
59.757595
seq distance
482
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45471994.
original residue
V
variation residue
I
position
232
score
100.0
distance
59.872433
seq distance
48
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45471994.
original residue
V
variation residue
I
position
232
score
100.0
distance
59.872433
seq distance
48
chain
B
In ATFB10; dbSNP:rs199473060.
original residue
M
variation residue
I
position
138
score
100.0
distance
60.39751
seq distance
142
chain
B
In ATFB10; dbSNP:rs199473060.
original residue
M
variation residue
I
position
138
score
100.0
distance
60.39751
seq distance
142
chain
B
In LQT3.
original residue
variation residue
begin
1507
end
1509
score
100.0
distance
60.722065
seq distance
1172
chain
B
In LQT3.
original residue
variation residue
begin
1507
end
1509
score
100.0
distance
60.722065
seq distance
1172
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473153.
original residue
G
variation residue
R
position
752
score
100.0
distance
61.51914
seq distance
417
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473153.
original residue
G
variation residue
R
position
752
score
100.0
distance
61.51914
seq distance
417
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473202.
original residue
Y
variation residue
S
position
1199
score
100.0
distance
62.93261
seq distance
864
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473202.
original residue
Y
variation residue
S
position
1199
score
100.0
distance
62.93261
seq distance
864
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs137854616.
original residue
G
variation residue
S
position
1262
score
100.0
distance
64.14668
seq distance
927
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs137854616.
original residue
G
variation residue
S
position
1262
score
100.0
distance
64.14668
seq distance
927
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473159.
original residue
V
variation residue
I
position
789
score
100.0
distance
64.98707
seq distance
454
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473159.
original residue
V
variation residue
I
position
789
score
100.0
distance
64.98707
seq distance
454
chain
B
In BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke; dbSNP:rs137854602.
original residue
R
variation residue
W
position
1512
score
100.0
distance
65.16944
seq distance
1177
chain
B
In BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke; dbSNP:rs137854602.
original residue
R
variation residue
W
position
1512
score
100.0
distance
65.16944
seq distance
1177
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473557.
original residue
L
variation residue
P
position
136
score
100.0
distance
65.22678
seq distance
144
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473557.
original residue
L
variation residue
P
position
136
score
100.0
distance
65.22678
seq distance
144
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs137854606.
original residue
G
variation residue
C
position
797
score
50.0
distance
66.40958
seq distance
462
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs137854606.
original residue
G
variation residue
C
position
797
score
50.0
distance
66.40958
seq distance
462
chain
B
In dbSNP:rs199473125.
original residue
R
variation residue
H
position
1195
score
50.0
distance
67.683586
seq distance
860
chain
B
In dbSNP:rs199473125.
original residue
R
variation residue
H
position
1195
score
50.0
distance
67.683586
seq distance
860
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473067.
original residue
A
variation residue
V
position
185
score
100.0
distance
67.71409
seq distance
95
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473067.
original residue
A
variation residue
V
position
185
score
100.0
distance
67.71409
seq distance
95
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473154.
original residue
G
variation residue
E
position
758
score
100.0
distance
68.30585
seq distance
423
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473154.
original residue
G
variation residue
E
position
758
score
100.0
distance
68.30585
seq distance
423
chain
B
In ATFB10; dbSNP:rs199473111.
original residue
E
variation residue
K
position
428
score
63.63636363636363
distance
68.48303
seq distance
93
chain
B
In ATFB10; dbSNP:rs199473111.
original residue
E
variation residue
K
position
428
score
63.63636363636363
distance
68.48303
seq distance
93
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473063.
original residue
K
variation residue
N
position
175
score
100.0
distance
68.49341
seq distance
105
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473063.
original residue
K
variation residue
N
position
175
score
100.0
distance
68.49341
seq distance
105
chain
B
In BRGDA1; loss of function; dbSNP:rs199473558.
original residue
T
variation residue
I
position
187
score
100.0
distance
68.52038
seq distance
93
chain
B
In BRGDA1; loss of function; dbSNP:rs199473558.
original residue
T
variation residue
I
position
187
score
100.0
distance
68.52038
seq distance
93
chain
B
In BRGDA1; dbSNP:rs199473124.
original residue
L
variation residue
Q
position
1194
score
50.0
distance
69.21786
seq distance
859
chain
B
In BRGDA1; dbSNP:rs199473124.
original residue
L
variation residue
Q
position
1194
score
50.0
distance
69.21786
seq distance
859
chain
B
In LQT3; unknown pathological significance; dbSNP:rs761375502.
original residue
variation residue
position
429
score
54.54545454545454
distance
70.63034
seq distance
94
chain
B
In LQT3; unknown pathological significance; dbSNP:rs761375502.
original residue
variation residue
position
429
score
54.54545454545454
distance
70.63034
seq distance
94
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473156.
original residue
M
variation residue
R
position
764
score
100.0
distance
71.31124
seq distance
429
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473156.
original residue
M
variation residue
R
position
764
score
100.0
distance
71.31124
seq distance
429
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
G
position
1193
score
50.0
distance
71.99001
seq distance
858
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473554.
original residue
R
variation residue
Q
position
1193
score
50.0
distance
71.99001
seq distance
858
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
W
position
1193
score
50.0
distance
71.99001
seq distance
858
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344.
original residue
R
variation residue
Q
position
1193
score
100.0
distance
71.99001
seq distance
858
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
G
position
1193
score
50.0
distance
71.99001
seq distance
858
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473554.
original residue
R
variation residue
Q
position
1193
score
50.0
distance
71.99001
seq distance
858
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
W
position
1193
score
50.0
distance
71.99001
seq distance
858
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344.
original residue
R
variation residue
Q
position
1193
score
100.0
distance
71.99001
seq distance
858
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473066.
original residue
C
variation residue
R
position
182
score
100.0
distance
72.45864
seq distance
98
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473066.
original residue
C
variation residue
R
position
182
score
100.0
distance
72.45864
seq distance
98
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473149.
original residue
P
variation residue
L
position
717
score
100.0
distance
73.15829
seq distance
382
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473149.
original residue
P
variation residue
L
position
717
score
100.0
distance
73.15829
seq distance
382
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473065.
original residue
A
variation residue
G
position
178
score
100.0
distance
73.384964
seq distance
102
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473065.
original residue
A
variation residue
G
position
178
score
100.0
distance
73.384964
seq distance
102
chain
B
In LQT3; dbSNP:rs199473059.
original residue
V
variation residue
L
position
125
score
100.0
distance
75.37313
seq distance
155
chain
B
In LQT3; dbSNP:rs199473059.
original residue
V
variation residue
L
position
125
score
100.0
distance
75.37313
seq distance
155
chain
B
In BRGDA1; dbSNP:rs185492581.
original residue
K
variation residue
E
position
126
score
100.0
distance
76.913765
seq distance
154
chain
B
In BRGDA1; dbSNP:rs185492581.
original residue
K
variation residue
E
position
126
score
100.0
distance
76.913765
seq distance
154
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473158.
original residue
P
variation residue
S
position
773
score
100.0
distance
77.554054
seq distance
438
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473158.
original residue
P
variation residue
S
position
773
score
100.0
distance
77.554054
seq distance
438
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473058.
original residue
R
variation residue
Q
position
121
score
72.72727272727273
distance
78.6646
seq distance
159
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473556.
original residue
R
variation residue
W
position
121
score
72.72727272727273
distance
78.6646
seq distance
159
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473058.
original residue
R
variation residue
Q
position
121
score
72.72727272727273
distance
78.6646
seq distance
159
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473556.
original residue
R
variation residue
W
position
121
score
72.72727272727273
distance
78.6646
seq distance
159
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473157.
original residue
D
variation residue
N
position
772
score
100.0
distance
80.49747
seq distance
437
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473157.
original residue
D
variation residue
N
position
772
score
100.0
distance
80.49747
seq distance
437
chain
B
In dbSNP:rs199473148.
original residue
S
variation residue
F
position
705
score
100.0
distance
89.85927
seq distance
370
chain
B
In dbSNP:rs199473148.
original residue
S
variation residue
F
position
705
score
100.0
distance
89.85927
seq distance
370
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473147.
original residue
P
variation residue
L
position
701
score
72.72727272727273
distance
94.13747
seq distance
366
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473147.
original residue
P
variation residue
L
position
701
score
72.72727272727273
distance
94.13747
seq distance
366
chain
B

Details

Redox score
72.26
PDB code
6lqa
Structure name
voltage-gated sodium channel nav1.5 with quinidine
Structure deposition date
2020-01-13
Thiol separation (Å)
4.46
Half-sphere exposure sum
67
Minimum pKa
nan
% buried
nan
Peptide accession
Q14524
Residue number A
280
Residue number B
335
Peptide name
Sodium channel protein type 5 subunit alpha
A redox-regulated disulphide may form within Sodium channel protein type 5 subunit alpha at these cysteines.

Relevent regions

In BRGDA1; unknown pathological significance; dbSNP:rs199473092.
original residue
L
variation residue
R
position
325
score
100.0
distance
4.4932933
seq distance
1
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473092.
original residue
L
variation residue
R
position
325
score
100.0
distance
4.4932933
seq distance
1
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473094.
original residue
R
variation residue
W
position
340
score
100.0
distance
4.7594705
seq distance
1
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473094.
original residue
R
variation residue
W
position
340
score
100.0
distance
4.7594705
seq distance
1
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473562.
original residue
H
variation residue
D
position
278
score
100.0
distance
7.298803
seq distance
48
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473562.
original residue
H
variation residue
D
position
278
score
100.0
distance
7.298803
seq distance
48
chain
B
In BRGDA1; severe reduction of sodium currents; dbSNP:rs199473093.
original residue
P
variation residue
L
position
336
score
100.0
distance
7.350863
seq distance
5
chain
B
In BRGDA1; severe reduction of sodium currents; dbSNP:rs199473093.
original residue
P
variation residue
L
position
336
score
100.0
distance
7.350863
seq distance
5
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473564.
original residue
L
variation residue
P
position
315
score
100.0
distance
8.139514
seq distance
11
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473564.
original residue
L
variation residue
P
position
315
score
100.0
distance
8.139514
seq distance
11
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473082.
original residue
R
variation residue
C
position
282
score
100.0
distance
9.662127
seq distance
44
chain
B
In BRGDA1; dbSNP:rs199473083.
original residue
R
variation residue
H
position
282
score
100.0
distance
9.662127
seq distance
44
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473082.
original residue
R
variation residue
C
position
282
score
100.0
distance
9.662127
seq distance
44
chain
B
In BRGDA1; dbSNP:rs199473083.
original residue
R
variation residue
H
position
282
score
100.0
distance
9.662127
seq distance
44
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473081.
original residue
L
variation residue
Q
position
276
score
100.0
distance
11.212457
seq distance
50
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473081.
original residue
L
variation residue
Q
position
276
score
100.0
distance
11.212457
seq distance
50
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473567.
original residue
G
variation residue
E
position
386
score
100.0
distance
11.55873
seq distance
45
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473102.
original residue
G
variation residue
R
position
386
score
100.0
distance
11.55873
seq distance
45
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473567.
original residue
G
variation residue
E
position
386
score
100.0
distance
11.55873
seq distance
45
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473102.
original residue
G
variation residue
R
position
386
score
100.0
distance
11.55873
seq distance
45
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; no effect on voltage dependence for activation and inactivation; dbSNP:rs1060499900.
original residue
D
variation residue
N
position
1690
score
100.0
distance
11.865322
seq distance
1349
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; no effect on voltage dependence for activation and inactivation; dbSNP:rs1060499900.
original residue
D
variation residue
N
position
1690
score
100.0
distance
11.865322
seq distance
1349
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473080.
original residue
N
variation residue
K
position
275
score
100.0
distance
12.446956
seq distance
51
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473080.
original residue
N
variation residue
K
position
275
score
100.0
distance
12.446956
seq distance
51
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473091.
original residue
T
variation residue
N
position
320
score
100.0
distance
15.389263
seq distance
6
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473091.
original residue
T
variation residue
N
position
320
score
100.0
distance
15.389263
seq distance
6
chain
B
In LQT3; dbSNP:rs199473043.
original residue
G
variation residue
V
position
319
score
50.0
distance
16.090113
seq distance
7
chain
B
In BRGDA1; dbSNP:rs199473090.
original residue
G
variation residue
S
position
319
score
100.0
distance
16.090113
seq distance
7
chain
B
In LQT3; dbSNP:rs199473043.
original residue
G
variation residue
V
position
319
score
50.0
distance
16.090113
seq distance
7
chain
B
In BRGDA1; dbSNP:rs199473090.
original residue
G
variation residue
S
position
319
score
100.0
distance
16.090113
seq distance
7
chain
B
In LQT3 and BRGDA1.
original residue
variation residue
position
1617
score
100.0
distance
16.256557
seq distance
1276
chain
B
In LQT3 and BRGDA1.
original residue
variation residue
position
1617
score
100.0
distance
16.256557
seq distance
1276
chain
B
In dbSNP:rs199473100.
original residue
R
variation residue
C
position
376
score
100.0
distance
16.32812
seq distance
35
chain
B
In BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation; dbSNP:rs199473101.
original residue
R
variation residue
H
position
376
score
100.0
distance
16.32812
seq distance
35
chain
B
In dbSNP:rs199473100.
original residue
R
variation residue
C
position
376
score
100.0
distance
16.32812
seq distance
35
chain
B
In BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation; dbSNP:rs199473101.
original residue
R
variation residue
H
position
376
score
100.0
distance
16.32812
seq distance
35
chain
B
In LQT3 and PFHB1A; dbSNP:rs199473282.
original residue
T
variation residue
K
position
1620
score
100.0
distance
17.020126
seq distance
1279
chain
B
In BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range; dbSNP:rs199473282.
original residue
T
variation residue
M
position
1620
score
100.0
distance
17.020126
seq distance
1279
chain
B
In LQT3 and PFHB1A; dbSNP:rs199473282.
original residue
T
variation residue
K
position
1620
score
100.0
distance
17.020126
seq distance
1279
chain
B
In BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range; dbSNP:rs199473282.
original residue
T
variation residue
M
position
1620
score
100.0
distance
17.020126
seq distance
1279
chain
B
In BRGDA1; dbSNP:rs199473096.
original residue
T
variation residue
I
position
353
score
100.0
distance
17.815996
seq distance
12
chain
B
In BRGDA1; dbSNP:rs199473096.
original residue
T
variation residue
I
position
353
score
100.0
distance
17.815996
seq distance
12
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473095.
original residue
G
variation residue
D
position
351
score
100.0
distance
18.593767
seq distance
10
chain
B
In BRGDA1; 7-fold current reduction; dbSNP:rs199473095.
original residue
G
variation residue
V
position
351
score
100.0
distance
18.593767
seq distance
10
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473095.
original residue
G
variation residue
D
position
351
score
100.0
distance
18.593767
seq distance
10
chain
B
In BRGDA1; 7-fold current reduction; dbSNP:rs199473095.
original residue
G
variation residue
V
position
351
score
100.0
distance
18.593767
seq distance
10
chain
B
In dbSNP:rs61746118.
original residue
A
variation residue
S
position
286
score
100.0
distance
19.12149
seq distance
40
chain
B
In dbSNP:rs61746118.
original residue
A
variation residue
S
position
286
score
100.0
distance
19.12149
seq distance
40
chain
B
In BRGDA1; loss of function; dbSNP:rs199473565.
original residue
D
variation residue
N
position
356
score
100.0
distance
19.443756
seq distance
15
chain
B
In BRGDA1; loss of function; dbSNP:rs199473565.
original residue
D
variation residue
N
position
356
score
100.0
distance
19.443756
seq distance
15
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473295.
original residue
A
variation residue
T
position
1698
score
100.0
distance
19.92735
seq distance
1357
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473295.
original residue
A
variation residue
T
position
1698
score
100.0
distance
19.92735
seq distance
1357
chain
B
In PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance; dbSNP:rs137854608.
original residue
G
variation residue
S
position
298
score
100.0
distance
20.016317
seq distance
28
chain
B
In PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance; dbSNP:rs137854608.
original residue
G
variation residue
S
position
298
score
100.0
distance
20.016317
seq distance
28
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473566.
original residue
W
variation residue
G
position
374
score
100.0
distance
20.428709
seq distance
33
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473566.
original residue
W
variation residue
G
position
374
score
100.0
distance
20.428709
seq distance
33
chain
B
In LQT3; dbSNP:rs137854600.
original residue
R
variation residue
L
position
1623
score
100.0
distance
21.484085
seq distance
1282
chain
B
In LQT3 and BRGDA1; dbSNP:rs137854600.
original residue
R
variation residue
Q
position
1623
score
100.0
distance
21.484085
seq distance
1282
chain
B
In LQT3; dbSNP:rs137854600.
original residue
R
variation residue
L
position
1623
score
100.0
distance
21.484085
seq distance
1282
chain
B
In LQT3 and BRGDA1; dbSNP:rs137854600.
original residue
R
variation residue
Q
position
1623
score
100.0
distance
21.484085
seq distance
1282
chain
B
In BRGDA1.
original residue
variation residue
position
393
score
100.0
distance
21.516794
seq distance
52
chain
B
In BRGDA1.
original residue
variation residue
position
393
score
100.0
distance
21.516794
seq distance
52
chain
B
In BRGDA1; dbSNP:rs199473086.
original residue
V
variation residue
M
position
294
score
100.0
distance
21.621614
seq distance
32
chain
B
In BRGDA1; dbSNP:rs199473086.
original residue
V
variation residue
M
position
294
score
100.0
distance
21.621614
seq distance
32
chain
B
In dbSNP:rs199473087.
original residue
L
variation residue
M
position
299
score
100.0
distance
21.793837
seq distance
27
chain
B
In dbSNP:rs199473087.
original residue
L
variation residue
M
position
299
score
100.0
distance
21.793837
seq distance
27
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473079.
original residue
Q
variation residue
K
position
270
score
100.0
distance
22.19482
seq distance
56
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473079.
original residue
Q
variation residue
K
position
270
score
100.0
distance
22.19482
seq distance
56
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473088.
original residue
V
variation residue
I
position
300
score
100.0
distance
22.646172
seq distance
26
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473088.
original residue
V
variation residue
I
position
300
score
100.0
distance
22.646172
seq distance
26
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473298.
original residue
G
variation residue
S
position
1712
score
100.0
distance
22.939388
seq distance
1371
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473298.
original residue
G
variation residue
S
position
1712
score
100.0
distance
22.939388
seq distance
1371
chain
B
In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation; dbSNP:rs199473627.
original residue
F
variation residue
S
position
1705
score
100.0
distance
23.395363
seq distance
1364
chain
B
In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation; dbSNP:rs199473627.
original residue
F
variation residue
S
position
1705
score
100.0
distance
23.395363
seq distance
1364
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473294.
original residue
A
variation residue
T
position
1680
score
100.0
distance
23.454552
seq distance
1339
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473294.
original residue
A
variation residue
T
position
1680
score
100.0
distance
23.454552
seq distance
1339
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473205.
original residue
Y
variation residue
H
position
1228
score
100.0
distance
23.618204
seq distance
887
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473205.
original residue
Y
variation residue
H
position
1228
score
100.0
distance
23.618204
seq distance
887
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473174.
original residue
E
variation residue
K
position
901
score
100.0
distance
24.465033
seq distance
560
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473174.
original residue
E
variation residue
K
position
901
score
100.0
distance
24.465033
seq distance
560
chain
B
In dbSNP:rs45553235.
original residue
Q
variation residue
K
position
1613
score
50.0
distance
24.494646
seq distance
1272
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473281.
original residue
Q
variation residue
L
position
1613
score
100.0
distance
24.494646
seq distance
1272
chain
B
In dbSNP:rs45553235.
original residue
Q
variation residue
K
position
1613
score
50.0
distance
24.494646
seq distance
1272
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473281.
original residue
Q
variation residue
L
position
1613
score
100.0
distance
24.494646
seq distance
1272
chain
B
In BRGDA1 and LQT3; express no current; dbSNP:rs199473097.
original residue
R
variation residue
C
position
367
score
100.0
distance
25.078587
seq distance
26
chain
B
In BRGDA1; express no current; dbSNP:rs28937318.
original residue
R
variation residue
H
position
367
score
100.0
distance
25.078587
seq distance
26
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs28937318.
original residue
R
variation residue
L
position
367
score
100.0
distance
25.078587
seq distance
26
chain
B
In BRGDA1 and LQT3; express no current; dbSNP:rs199473097.
original residue
R
variation residue
C
position
367
score
100.0
distance
25.078587
seq distance
26
chain
B
In BRGDA1; express no current; dbSNP:rs28937318.
original residue
R
variation residue
H
position
367
score
100.0
distance
25.078587
seq distance
26
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs28937318.
original residue
R
variation residue
L
position
367
score
100.0
distance
25.078587
seq distance
26
chain
B
In BRGDA1; strong decrease of current density; does not affect ion selectivity properties; dbSNP:rs199473628.
original residue
D
variation residue
G
position
1714
score
100.0
distance
25.330168
seq distance
1373
chain
B
In BRGDA1; strong decrease of current density; does not affect ion selectivity properties; dbSNP:rs199473628.
original residue
D
variation residue
G
position
1714
score
100.0
distance
25.330168
seq distance
1373
chain
B
4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
original residue
K
variation residue
A
position
1614
score
100.0
distance
25.538645
seq distance
1273
chain
B
4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
original residue
K
variation residue
A
position
1614
score
100.0
distance
25.538645
seq distance
1273
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473302.
original residue
C
variation residue
R
position
1728
score
100.0
distance
25.821497
seq distance
1387
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs193922726.
original residue
C
variation residue
W
position
1728
score
100.0
distance
25.821497
seq distance
1387
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473302.
original residue
C
variation residue
R
position
1728
score
100.0
distance
25.821497
seq distance
1387
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs193922726.
original residue
C
variation residue
W
position
1728
score
100.0
distance
25.821497
seq distance
1387
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473103.
original residue
V
variation residue
A
position
396
score
100.0
distance
25.97879
seq distance
55
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473104.
original residue
V
variation residue
L
position
396
score
100.0
distance
25.97879
seq distance
55
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473103.
original residue
V
variation residue
A
position
396
score
100.0
distance
25.97879
seq distance
55
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473104.
original residue
V
variation residue
L
position
396
score
100.0
distance
25.97879
seq distance
55
chain
B
In LQT3; dbSNP:rs199473598.
original residue
E
variation residue
K
position
1231
score
100.0
distance
26.176613
seq distance
890
chain
B
In LQT3; dbSNP:rs199473598.
original residue
E
variation residue
K
position
1231
score
100.0
distance
26.176613
seq distance
890
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
H
position
1626
score
100.0
distance
26.219639
seq distance
1285
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
P
position
1626
score
100.0
distance
26.219639
seq distance
1285
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
H
position
1626
score
100.0
distance
26.219639
seq distance
1285
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
P
position
1626
score
100.0
distance
26.219639
seq distance
1285
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473271.
original residue
E
variation residue
K
position
1548
score
100.0
distance
26.319471
seq distance
1207
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473271.
original residue
E
variation residue
K
position
1548
score
100.0
distance
26.319471
seq distance
1207
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473105.
original residue
I
variation residue
T
position
397
score
100.0
distance
26.325132
seq distance
56
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473105.
original residue
I
variation residue
T
position
397
score
100.0
distance
26.325132
seq distance
56
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473626.
original residue
S
variation residue
Y
position
1672
score
100.0
distance
26.894915
seq distance
1331
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473626.
original residue
S
variation residue
Y
position
1672
score
100.0
distance
26.894915
seq distance
1331
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473084.
original residue
G
variation residue
S
position
289
score
100.0
distance
27.078217
seq distance
37
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473084.
original residue
G
variation residue
S
position
289
score
100.0
distance
27.078217
seq distance
37
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473206.
original residue
R
variation residue
Q
position
1232
score
100.0
distance
27.324814
seq distance
891
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473207.
original residue
R
variation residue
W
position
1232
score
100.0
distance
27.324814
seq distance
891
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473206.
original residue
R
variation residue
Q
position
1232
score
100.0
distance
27.324814
seq distance
891
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473207.
original residue
R
variation residue
W
position
1232
score
100.0
distance
27.324814
seq distance
891
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
M
position
1709
score
100.0
distance
27.459974
seq distance
1368
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
R
position
1709
score
100.0
distance
27.459974
seq distance
1368
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
M
position
1709
score
100.0
distance
27.459974
seq distance
1368
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
R
position
1709
score
100.0
distance
27.459974
seq distance
1368
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473611.
original residue
G
variation residue
R
position
1420
score
100.0
distance
27.513802
seq distance
1079
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473611.
original residue
G
variation residue
R
position
1420
score
100.0
distance
27.513802
seq distance
1079
chain
B
In BRGDA1; dbSNP:rs199473098.
original residue
M
variation residue
K
position
369
score
100.0
distance
27.63284
seq distance
28
chain
B
In BRGDA1; dbSNP:rs199473098.
original residue
M
variation residue
K
position
369
score
100.0
distance
27.63284
seq distance
28
chain
B
In VF1; dbSNP:rs137854604.
original residue
S
variation residue
L
position
1710
score
100.0
distance
27.692595
seq distance
1369
chain
B
In VF1; dbSNP:rs137854604.
original residue
S
variation residue
L
position
1710
score
100.0
distance
27.692595
seq distance
1369
chain
B
In BRGDA1; dbSNP:rs199473629.
original residue
G
variation residue
E
position
1743
score
100.0
distance
27.887316
seq distance
1402
chain
B
In BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells; dbSNP:rs199473305.
original residue
G
variation residue
R
position
1743
score
100.0
distance
27.887316
seq distance
1402
chain
B
In BRGDA1; dbSNP:rs199473629.
original residue
G
variation residue
E
position
1743
score
100.0
distance
27.887316
seq distance
1402
chain
B
In BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells; dbSNP:rs199473305.
original residue
G
variation residue
R
position
1743
score
100.0
distance
27.887316
seq distance
1402
chain
B
In dbSNP:rs199473563.
original residue
N
variation residue
S
position
291
score
100.0
distance
27.95015
seq distance
35
chain
B
In dbSNP:rs199473563.
original residue
N
variation residue
S
position
291
score
100.0
distance
27.95015
seq distance
35
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473242.
original residue
K
variation residue
E
position
1419
score
100.0
distance
27.999817
seq distance
1078
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473242.
original residue
K
variation residue
E
position
1419
score
100.0
distance
27.999817
seq distance
1078
chain
B
In LQT3; dbSNP:rs199473622.
original residue
S
variation residue
W
position
1609
score
100.0
distance
28.248991
seq distance
1268
chain
B
In LQT3; dbSNP:rs199473622.
original residue
S
variation residue
W
position
1609
score
100.0
distance
28.248991
seq distance
1268
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473299.
original residue
N
variation residue
D
position
1722
score
100.0
distance
28.415249
seq distance
1381
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473299.
original residue
N
variation residue
D
position
1722
score
100.0
distance
28.415249
seq distance
1381
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473204.
original residue
E
variation residue
K
position
1225
score
100.0
distance
28.625362
seq distance
884
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473204.
original residue
E
variation residue
K
position
1225
score
100.0
distance
28.625362
seq distance
884
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473099.
original residue
T
variation residue
M
position
370
score
100.0
distance
28.843065
seq distance
29
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473099.
original residue
T
variation residue
M
position
370
score
100.0
distance
28.843065
seq distance
29
chain
B
In BRGDA1; dbSNP:rs199473304.
original residue
G
variation residue
R
position
1740
score
100.0
distance
29.158136
seq distance
1399
chain
B
In BRGDA1; dbSNP:rs199473304.
original residue
G
variation residue
R
position
1740
score
100.0
distance
29.158136
seq distance
1399
chain
B
Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
original residue
D
variation residue
A
position
1610
score
100.0
distance
29.527225
seq distance
1269
chain
B
High decrease in affinity to the sea anemone toxin anthopleurin-B.
original residue
D
variation residue
R
position
1610
score
100.0
distance
29.527225
seq distance
1269
chain
B
Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
original residue
D
variation residue
A
position
1610
score
100.0
distance
29.527225
seq distance
1269
chain
B
High decrease in affinity to the sea anemone toxin anthopleurin-B.
original residue
D
variation residue
R
position
1610
score
100.0
distance
29.527225
seq distance
1269
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; changed voltage dependence for activation and inactivation.
original residue
G
variation residue
D
position
1748
score
100.0
distance
30.466068
seq distance
1407
chain
B
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; changed voltage dependence for activation and inactivation.
original residue
G
variation residue
D
position
1748
score
100.0
distance
30.466068
seq distance
1407
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473303.
original residue
R
variation residue
W
position
1739
score
100.0
distance
30.735027
seq distance
1398
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473303.
original residue
R
variation residue
W
position
1739
score
100.0
distance
30.735027
seq distance
1398
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473300.
original residue
T
variation residue
N
position
1723
score
100.0
distance
30.995573
seq distance
1382
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473300.
original residue
T
variation residue
N
position
1723
score
100.0
distance
30.995573
seq distance
1382
chain
B
In BRGDA1; dbSNP:rs199473168.
original residue
R
variation residue
C
position
878
score
100.0
distance
31.25238
seq distance
537
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473587.
original residue
R
variation residue
H
position
878
score
100.0
distance
31.25238
seq distance
537
chain
B
In BRGDA1; dbSNP:rs199473168.
original residue
R
variation residue
C
position
878
score
100.0
distance
31.25238
seq distance
537
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473587.
original residue
R
variation residue
H
position
878
score
100.0
distance
31.25238
seq distance
537
chain
B
Phosphoserine
position
1744
score
50.0
distance
31.396786
seq distance
1403
chain
B
Phosphoserine
position
1744
score
50.0
distance
31.396786
seq distance
1403
chain
B
In BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation; dbSNP:rs199473180.
original residue
R
variation residue
C
position
1629
score
59.09090909090909
distance
31.692343
seq distance
1288
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
H
position
1629
score
59.09090909090909
distance
31.692343
seq distance
1288
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
L
position
1629
score
59.09090909090909
distance
31.692343
seq distance
1288
chain
B
In BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation; dbSNP:rs199473623.
original residue
R
variation residue
Q
position
1629
score
100.0
distance
31.692343
seq distance
1288
chain
B
In BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation; dbSNP:rs199473180.
original residue
R
variation residue
C
position
1629
score
59.09090909090909
distance
31.692343
seq distance
1288
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
H
position
1629
score
59.09090909090909
distance
31.692343
seq distance
1288
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
L
position
1629
score
59.09090909090909
distance
31.692343
seq distance
1288
chain
B
In BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation; dbSNP:rs199473623.
original residue
R
variation residue
Q
position
1629
score
100.0
distance
31.692343
seq distance
1288
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473619.
original residue
L
variation residue
F
position
1560
score
100.0
distance
31.939947
seq distance
1219
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473619.
original residue
L
variation residue
F
position
1560
score
100.0
distance
31.939947
seq distance
1219
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473588.
original residue
C
variation residue
R
position
915
score
100.0
distance
32.523262
seq distance
574
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473588.
original residue
C
variation residue
R
position
915
score
100.0
distance
32.523262
seq distance
574
chain
B
In BRGDA1; dbSNP:rs199473175.
original residue
S
variation residue
L
position
910
score
100.0
distance
32.580013
seq distance
569
chain
B
In BRGDA1; dbSNP:rs199473175.
original residue
S
variation residue
L
position
910
score
100.0
distance
32.580013
seq distance
569
chain
B
In BRGDA1; dbSNP:rs199473208.
original residue
K
variation residue
N
position
1236
score
100.0
distance
32.840405
seq distance
895
chain
B
In BRGDA1; dbSNP:rs199473208.
original residue
K
variation residue
N
position
1236
score
100.0
distance
32.840405
seq distance
895
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473293.
original residue
V
variation residue
I
position
1667
score
100.0
distance
33.12633
seq distance
1326
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473293.
original residue
V
variation residue
I
position
1667
score
100.0
distance
33.12633
seq distance
1326
chain
B
In LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation; dbSNP:rs794728898.
original residue
H
variation residue
R
position
880
score
50.0
distance
33.386234
seq distance
539
chain
B
In LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation; dbSNP:rs794728898.
original residue
H
variation residue
R
position
880
score
50.0
distance
33.386234
seq distance
539
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473171.
original residue
R
variation residue
C
position
893
score
100.0
distance
33.486946
seq distance
552
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473172.
original residue
R
variation residue
H
position
893
score
100.0
distance
33.486946
seq distance
552
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473171.
original residue
R
variation residue
C
position
893
score
100.0
distance
33.486946
seq distance
552
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473172.
original residue
R
variation residue
H
position
893
score
100.0
distance
33.486946
seq distance
552
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473244.
original residue
A
variation residue
S
position
1427
score
100.0
distance
33.788223
seq distance
1086
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473244.
original residue
A
variation residue
S
position
1427
score
100.0
distance
33.788223
seq distance
1086
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473280.
original residue
V
variation residue
M
position
1604
score
100.0
distance
34.079166
seq distance
1263
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473280.
original residue
V
variation residue
M
position
1604
score
100.0
distance
34.079166
seq distance
1263
chain
B
In BRGDA1; dbSNP:rs199473173.
original residue
C
variation residue
S
position
896
score
100.0
distance
34.319637
seq distance
555
chain
B
In BRGDA1; dbSNP:rs199473173.
original residue
C
variation residue
S
position
896
score
100.0
distance
34.319637
seq distance
555
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473237.
original residue
C
variation residue
Y
position
1363
score
100.0
distance
34.324387
seq distance
1022
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473237.
original residue
C
variation residue
Y
position
1363
score
100.0
distance
34.324387
seq distance
1022
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473292.
original residue
G
variation residue
R
position
1661
score
100.0
distance
34.35999
seq distance
1320
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473292.
original residue
G
variation residue
R
position
1661
score
100.0
distance
34.35999
seq distance
1320
chain
B
In LQT3; dbSNP:rs199473107.
original residue
L
variation residue
Q
position
404
score
100.0
distance
34.778065
seq distance
63
chain
B
In LQT3; dbSNP:rs199473107.
original residue
L
variation residue
Q
position
404
score
100.0
distance
34.778065
seq distance
63
chain
B
In LQT3; dbSNP:rs199473631.
original residue
V
variation residue
M
position
1763
score
100.0
distance
35.09499
seq distance
1422
chain
B
In LQT3; dbSNP:rs199473631.
original residue
V
variation residue
M
position
1763
score
100.0
distance
35.09499
seq distance
1422
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473176.
original residue
L
variation residue
R
position
917
score
100.0
distance
35.17483
seq distance
576
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473176.
original residue
L
variation residue
R
position
917
score
100.0
distance
35.17483
seq distance
576
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473167.
original residue
E
variation residue
Q
position
867
score
100.0
distance
35.259586
seq distance
526
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473167.
original residue
E
variation residue
Q
position
867
score
100.0
distance
35.259586
seq distance
526
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473597.
original residue
S
variation residue
N
position
1219
score
100.0
distance
35.526047
seq distance
878
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473597.
original residue
S
variation residue
N
position
1219
score
100.0
distance
35.526047
seq distance
878
chain
B
In LQT3; dbSNP:rs199473603.
original residue
T
variation residue
M
position
1304
score
100.0
distance
35.786156
seq distance
963
chain
B
In LQT3; dbSNP:rs199473603.
original residue
T
variation residue
M
position
1304
score
100.0
distance
35.786156
seq distance
963
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473210.
original residue
L
variation residue
P
position
1239
score
100.0
distance
35.920654
seq distance
898
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473210.
original residue
L
variation residue
P
position
1239
score
100.0
distance
35.920654
seq distance
898
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473236.
original residue
F
variation residue
C
position
1360
score
100.0
distance
36.70332
seq distance
1019
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473236.
original residue
F
variation residue
C
position
1360
score
100.0
distance
36.70332
seq distance
1019
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473612.
original residue
A
variation residue
V
position
1428
score
100.0
distance
37.075428
seq distance
1087
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473612.
original residue
A
variation residue
V
position
1428
score
100.0
distance
37.075428
seq distance
1087
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473248.
original residue
P
variation residue
L
position
1438
score
100.0
distance
37.208324
seq distance
1097
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473248.
original residue
P
variation residue
L
position
1438
score
100.0
distance
37.208324
seq distance
1097
chain
B
In BRGDA1; dbSNP:rs199473170.
original residue
F
variation residue
I
position
892
score
100.0
distance
37.248474
seq distance
551
chain
B
In BRGDA1; dbSNP:rs199473170.
original residue
F
variation residue
I
position
892
score
100.0
distance
37.248474
seq distance
551
chain
B
In LQT3; dbSNP:rs199473108.
original residue
N
variation residue
K
position
406
score
100.0
distance
37.301376
seq distance
65
chain
B
In BRGDA1; dbSNP:rs199473568.
original residue
N
variation residue
S
position
406
score
100.0
distance
37.301376
seq distance
65
chain
B
In LQT3; dbSNP:rs199473108.
original residue
N
variation residue
K
position
406
score
100.0
distance
37.301376
seq distance
65
chain
B
In BRGDA1; dbSNP:rs199473568.
original residue
N
variation residue
S
position
406
score
100.0
distance
37.301376
seq distance
65
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473241.
original residue
L
variation residue
F
position
1412
score
100.0
distance
37.321228
seq distance
1071
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473241.
original residue
L
variation residue
F
position
1412
score
100.0
distance
37.321228
seq distance
1071
chain
B
In BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane; dbSNP:rs199473625.
original residue
I
variation residue
V
position
1660
score
100.0
distance
37.735966
seq distance
1319
chain
B
In BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane; dbSNP:rs199473625.
original residue
I
variation residue
V
position
1660
score
100.0
distance
37.735966
seq distance
1319
chain
B
Associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031.
original residue
L
variation residue
F
position
1308
score
100.0
distance
37.78793
seq distance
967
chain
B
Associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031.
original residue
L
variation residue
F
position
1308
score
100.0
distance
37.78793
seq distance
967
chain
B
In dbSNP:rs199473177.
original residue
V
variation residue
I
position
924
score
100.0
distance
37.826027
seq distance
583
chain
B
In dbSNP:rs199473177.
original residue
V
variation residue
I
position
924
score
100.0
distance
37.826027
seq distance
583
chain
B
May confer susceptibility to acquired arrhythmia; dbSNP:rs7626962.
original residue
S
variation residue
Y
position
1218
score
50.0
distance
37.912724
seq distance
877
chain
B
May confer susceptibility to acquired arrhythmia; dbSNP:rs7626962.
original residue
S
variation residue
Y
position
1218
score
50.0
distance
37.912724
seq distance
877
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473169.
original residue
H
variation residue
P
position
886
score
100.0
distance
38.0871
seq distance
545
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473169.
original residue
H
variation residue
P
position
886
score
100.0
distance
38.0871
seq distance
545
chain
B
In LQT3; affects protein trafficking; dbSNP:rs199473310.
original residue
M
variation residue
L
position
1766
score
100.0
distance
38.140976
seq distance
1425
chain
B
In LQT3; affects protein trafficking; dbSNP:rs199473310.
original residue
M
variation residue
L
position
1766
score
100.0
distance
38.140976
seq distance
1425
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473307.
original residue
L
variation residue
F
position
1761
score
100.0
distance
38.257294
seq distance
1420
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473308.
original residue
L
variation residue
H
position
1761
score
100.0
distance
38.257294
seq distance
1420
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473307.
original residue
L
variation residue
F
position
1761
score
100.0
distance
38.257294
seq distance
1420
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473308.
original residue
L
variation residue
H
position
1761
score
100.0
distance
38.257294
seq distance
1420
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473249.
original residue
E
variation residue
Q
position
1441
score
100.0
distance
38.401917
seq distance
1100
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473249.
original residue
E
variation residue
Q
position
1441
score
100.0
distance
38.401917
seq distance
1100
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473309.
original residue
V
variation residue
F
position
1764
score
100.0
distance
38.568333
seq distance
1423
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473309.
original residue
V
variation residue
F
position
1764
score
100.0
distance
38.568333
seq distance
1423
chain
B
In dbSNP:rs199473211.
original residue
E
variation residue
Q
position
1240
score
100.0
distance
38.72868
seq distance
899
chain
B
In dbSNP:rs199473211.
original residue
E
variation residue
Q
position
1240
score
100.0
distance
38.72868
seq distance
899
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473589.
original residue
N
variation residue
S
position
927
score
100.0
distance
38.847984
seq distance
586
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473589.
original residue
N
variation residue
S
position
927
score
100.0
distance
38.847984
seq distance
586
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473610.
original residue
Y
variation residue
C
position
1409
score
100.0
distance
39.47031
seq distance
1068
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473610.
original residue
Y
variation residue
C
position
1409
score
100.0
distance
39.47031
seq distance
1068
chain
B
In SSS1 and BRGDA1; dbSNP:rs137854612.
original residue
G
variation residue
R
position
1408
score
100.0
distance
39.545994
seq distance
1067
chain
B
In SSS1 and BRGDA1; dbSNP:rs137854612.
original residue
G
variation residue
R
position
1408
score
100.0
distance
39.545994
seq distance
1067
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473632.
original residue
Y
variation residue
C
position
1767
score
100.0
distance
39.702393
seq distance
1426
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473632.
original residue
Y
variation residue
C
position
1767
score
100.0
distance
39.702393
seq distance
1426
chain
B
In LQT3; dbSNP:rs199473253.
original residue
S
variation residue
Y
position
1458
score
100.0
distance
39.930267
seq distance
1117
chain
B
In LQT3; dbSNP:rs199473253.
original residue
S
variation residue
Y
position
1458
score
100.0
distance
39.930267
seq distance
1117
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473219.
original residue
L
variation residue
P
position
1311
score
100.0
distance
39.964615
seq distance
970
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473219.
original residue
L
variation residue
P
position
1311
score
100.0
distance
39.964615
seq distance
970
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473599.
original residue
D
variation residue
N
position
1243
score
100.0
distance
40.19968
seq distance
902
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473599.
original residue
D
variation residue
N
position
1243
score
100.0
distance
40.19968
seq distance
902
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473290.
original residue
L
variation residue
F
position
1650
score
100.0
distance
40.265488
seq distance
1309
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473290.
original residue
L
variation residue
F
position
1650
score
100.0
distance
40.265488
seq distance
1309
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473235.
original residue
K
variation residue
N
position
1359
score
100.0
distance
40.396687
seq distance
1018
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473235.
original residue
K
variation residue
N
position
1359
score
100.0
distance
40.396687
seq distance
1018
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473252.
original residue
V
variation residue
D
position
1451
score
100.0
distance
40.71507
seq distance
1110
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473252.
original residue
V
variation residue
D
position
1451
score
100.0
distance
40.71507
seq distance
1110
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473109.
original residue
L
variation residue
V
position
409
score
100.0
distance
41.26927
seq distance
68
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473109.
original residue
L
variation residue
V
position
409
score
100.0
distance
41.26927
seq distance
68
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473609.
original residue
G
variation residue
E
position
1406
score
100.0
distance
41.679142
seq distance
1065
chain
B
In BRGDA1; dbSNP:rs199473240.
original residue
G
variation residue
R
position
1406
score
100.0
distance
41.679142
seq distance
1065
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473609.
original residue
G
variation residue
E
position
1406
score
100.0
distance
41.679142
seq distance
1065
chain
B
In BRGDA1; dbSNP:rs199473240.
original residue
G
variation residue
R
position
1406
score
100.0
distance
41.679142
seq distance
1065
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473234.
original residue
G
variation residue
W
position
1358
score
100.0
distance
41.730656
seq distance
1017
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473234.
original residue
G
variation residue
W
position
1358
score
100.0
distance
41.730656
seq distance
1017
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473178.
original residue
L
variation residue
P
position
928
score
100.0
distance
41.807045
seq distance
587
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473178.
original residue
L
variation residue
P
position
928
score
100.0
distance
41.807045
seq distance
587
chain
B
In BRGDA1; asymptomatic patient; associated with R-1527; dbSNP:rs199473273.
original residue
A
variation residue
P
position
1569
score
100.0
distance
41.94251
seq distance
1228
chain
B
In BRGDA1; asymptomatic patient; associated with R-1527; dbSNP:rs199473273.
original residue
A
variation residue
P
position
1569
score
100.0
distance
41.94251
seq distance
1228
chain
B
In SSS1; dbSNP:rs28937319.
original residue
P
variation residue
L
position
1298
score
100.0
distance
42.299683
seq distance
957
chain
B
In SSS1; dbSNP:rs28937319.
original residue
P
variation residue
L
position
1298
score
100.0
distance
42.299683
seq distance
957
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473277.
original residue
F
variation residue
S
position
1594
score
100.0
distance
42.36002
seq distance
1253
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473277.
original residue
F
variation residue
S
position
1594
score
100.0
distance
42.36002
seq distance
1253
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473045.
original residue
R
variation residue
H
position
1432
score
54.54545454545454
distance
42.389496
seq distance
1091
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473245.
original residue
R
variation residue
G
position
1432
score
100.0
distance
42.389496
seq distance
1091
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473246.
original residue
R
variation residue
S
position
1432
score
100.0
distance
42.389496
seq distance
1091
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473045.
original residue
R
variation residue
H
position
1432
score
54.54545454545454
distance
42.389496
seq distance
1091
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473245.
original residue
R
variation residue
G
position
1432
score
100.0
distance
42.389496
seq distance
1091
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473246.
original residue
R
variation residue
S
position
1432
score
100.0
distance
42.389496
seq distance
1091
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473250.
original residue
I
variation residue
L
position
1448
score
100.0
distance
42.641598
seq distance
1107
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473251.
original residue
I
variation residue
T
position
1448
score
100.0
distance
42.641598
seq distance
1107
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473250.
original residue
I
variation residue
L
position
1448
score
100.0
distance
42.641598
seq distance
1107
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473251.
original residue
I
variation residue
T
position
1448
score
100.0
distance
42.641598
seq distance
1107
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473613.
original residue
Y
variation residue
C
position
1449
score
100.0
distance
42.709976
seq distance
1108
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473613.
original residue
Y
variation residue
C
position
1449
score
100.0
distance
42.709976
seq distance
1108
chain
B
In LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation; dbSNP:rs199473218.
original residue
E
variation residue
K
position
1295
score
100.0
distance
42.825638
seq distance
954
chain
B
In LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation; dbSNP:rs199473218.
original residue
E
variation residue
K
position
1295
score
100.0
distance
42.825638
seq distance
954
chain
B
In PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3; dbSNP:rs137854607.
original residue
D
variation residue
N
position
1595
score
100.0
distance
42.95073
seq distance
1254
chain
B
In PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3; dbSNP:rs137854607.
original residue
D
variation residue
N
position
1595
score
100.0
distance
42.95073
seq distance
1254
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473274.
original residue
F
variation residue
C
position
1571
score
100.0
distance
43.03854
seq distance
1230
chain
B
In BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest; dbSNP:rs1369632373.
original residue
F
variation residue
L
position
1571
score
100.0
distance
43.03854
seq distance
1230
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473274.
original residue
F
variation residue
C
position
1571
score
100.0
distance
43.03854
seq distance
1230
chain
B
In BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest; dbSNP:rs1369632373.
original residue
F
variation residue
L
position
1571
score
100.0
distance
43.03854
seq distance
1230
chain
B
In LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve; dbSNP:rs199473311.
original residue
I
variation residue
V
position
1768
score
100.0
distance
43.1785
seq distance
1427
chain
B
In LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve; dbSNP:rs199473311.
original residue
I
variation residue
V
position
1768
score
100.0
distance
43.1785
seq distance
1427
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473221.
original residue
V
variation residue
G
position
1323
score
100.0
distance
43.24036
seq distance
982
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473221.
original residue
V
variation residue
G
position
1323
score
100.0
distance
43.24036
seq distance
982
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473278.
original residue
F
variation residue
I
position
1596
score
100.0
distance
43.300163
seq distance
1255
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473278.
original residue
F
variation residue
I
position
1596
score
100.0
distance
43.300163
seq distance
1255
chain
B
In BRGDA1; dbSNP:rs199473220.
original residue
G
variation residue
V
position
1319
score
100.0
distance
43.638252
seq distance
978
chain
B
In BRGDA1; dbSNP:rs199473220.
original residue
G
variation residue
V
position
1319
score
100.0
distance
43.638252
seq distance
978
chain
B
In LQT3; unknown pathological significance; dbSNP:rs794728920.
original residue
variation residue
position
1212
score
100.0
distance
43.641117
seq distance
871
chain
B
In LQT3; unknown pathological significance; dbSNP:rs794728920.
original residue
variation residue
position
1212
score
100.0
distance
43.641117
seq distance
871
chain
B
In BRGDA1; dbSNP:rs199473289.
original residue
A
variation residue
V
position
1649
score
100.0
distance
43.684612
seq distance
1308
chain
B
In LQT3; dbSNP:rs199473330.
original residue
A
variation residue
S
position
1649
score
54.54545454545454
distance
43.684612
seq distance
1308
chain
B
In BRGDA1; dbSNP:rs199473289.
original residue
A
variation residue
V
position
1649
score
100.0
distance
43.684612
seq distance
1308
chain
B
In LQT3; dbSNP:rs199473330.
original residue
A
variation residue
S
position
1649
score
54.54545454545454
distance
43.684612
seq distance
1308
chain
B
In BRGDA1; dbSNP:rs199473239.
original residue
V
variation residue
L
position
1405
score
100.0
distance
43.9806
seq distance
1064
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473239.
original residue
V
variation residue
M
position
1405
score
100.0
distance
43.9806
seq distance
1064
chain
B
In BRGDA1; dbSNP:rs199473239.
original residue
V
variation residue
L
position
1405
score
100.0
distance
43.9806
seq distance
1064
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473239.
original residue
V
variation residue
M
position
1405
score
100.0
distance
43.9806
seq distance
1064
chain
B
In LQT3; dbSNP:rs199473287.
original residue
R
variation residue
C
position
1644
score
100.0
distance
44.113235
seq distance
1303
chain
B
In LQT3; dbSNP:rs28937316.
original residue
R
variation residue
H
position
1644
score
100.0
distance
44.113235
seq distance
1303
chain
B
In LQT3; dbSNP:rs199473287.
original residue
R
variation residue
C
position
1644
score
100.0
distance
44.113235
seq distance
1303
chain
B
In LQT3; dbSNP:rs28937316.
original residue
R
variation residue
H
position
1644
score
100.0
distance
44.113235
seq distance
1303
chain
B
In LQT3; dbSNP:rs199473291.
original residue
M
variation residue
R
position
1652
score
100.0
distance
44.131527
seq distance
1311
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473291.
original residue
M
variation residue
T
position
1652
score
100.0
distance
44.131527
seq distance
1311
chain
B
In LQT3; dbSNP:rs199473291.
original residue
M
variation residue
R
position
1652
score
100.0
distance
44.131527
seq distance
1311
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473291.
original residue
M
variation residue
T
position
1652
score
100.0
distance
44.131527
seq distance
1311
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473233.
original residue
V
variation residue
M
position
1353
score
100.0
distance
44.430428
seq distance
1012
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473233.
original residue
V
variation residue
M
position
1353
score
100.0
distance
44.430428
seq distance
1012
chain
B
In BRGDA1; dbSNP:rs199473608.
original residue
S
variation residue
I
position
1382
score
100.0
distance
44.57913
seq distance
1041
chain
B
In BRGDA1; dbSNP:rs199473608.
original residue
S
variation residue
I
position
1382
score
100.0
distance
44.57913
seq distance
1041
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473247.
original residue
G
variation residue
V
position
1433
score
100.0
distance
44.75721
seq distance
1092
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473247.
original residue
G
variation residue
V
position
1433
score
100.0
distance
44.75721
seq distance
1092
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473614.
original residue
N
variation residue
Y
position
1463
score
100.0
distance
44.830837
seq distance
1122
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473614.
original residue
N
variation residue
Y
position
1463
score
100.0
distance
44.830837
seq distance
1122
chain
B
In LQT3; dbSNP:rs199473615.
original residue
F
variation residue
L
position
1486
score
100.0
distance
44.940052
seq distance
1145
chain
B
In LQT3; dbSNP:rs199473615.
original residue
F
variation residue
L
position
1486
score
100.0
distance
44.940052
seq distance
1145
chain
B
In LQT3; dbSNP:rs72549410.
original residue
V
variation residue
M
position
411
score
100.0
distance
45.0827
seq distance
70
chain
B
In LQT3; dbSNP:rs72549410.
original residue
V
variation residue
M
position
411
score
100.0
distance
45.0827
seq distance
70
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473227.
original residue
L
variation residue
V
position
1338
score
100.0
distance
45.18392
seq distance
997
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473227.
original residue
L
variation residue
V
position
1338
score
100.0
distance
45.18392
seq distance
997
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473624.
original residue
G
variation residue
E
position
1642
score
100.0
distance
45.46468
seq distance
1301
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473624.
original residue
G
variation residue
E
position
1642
score
100.0
distance
45.46468
seq distance
1301
chain
B
In BRGDA1; dbSNP:rs199473586.
original residue
F
variation residue
L
position
851
score
100.0
distance
45.530224
seq distance
510
chain
B
In BRGDA1; dbSNP:rs199473586.
original residue
F
variation residue
L
position
851
score
100.0
distance
45.530224
seq distance
510
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473276.
original residue
I
variation residue
M
position
1593
score
100.0
distance
45.69945
seq distance
1252
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473276.
original residue
I
variation residue
M
position
1593
score
100.0
distance
45.69945
seq distance
1252
chain
B
In LQT3; dbSNP:rs199473288.
original residue
T
variation residue
M
position
1645
score
100.0
distance
45.997345
seq distance
1304
chain
B
In LQT3; dbSNP:rs199473288.
original residue
T
variation residue
M
position
1645
score
100.0
distance
45.997345
seq distance
1304
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473078.
original residue
V
variation residue
L
position
247
score
100.0
distance
46.039925
seq distance
79
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473078.
original residue
V
variation residue
L
position
247
score
100.0
distance
46.039925
seq distance
79
chain
B
In dbSNP:rs41313697.
original residue
L
variation residue
V
position
1286
score
54.54545454545454
distance
46.081867
seq distance
945
chain
B
In dbSNP:rs41313697.
original residue
L
variation residue
V
position
1286
score
54.54545454545454
distance
46.081867
seq distance
945
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473226.
original residue
I
variation residue
V
position
1334
score
100.0
distance
46.218754
seq distance
993
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473226.
original residue
I
variation residue
V
position
1334
score
100.0
distance
46.218754
seq distance
993
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473230.
original residue
L
variation residue
I
position
1346
score
100.0
distance
46.65447
seq distance
1005
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473231.
original residue
L
variation residue
P
position
1346
score
100.0
distance
46.65447
seq distance
1005
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473230.
original residue
L
variation residue
I
position
1346
score
100.0
distance
46.65447
seq distance
1005
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473231.
original residue
L
variation residue
P
position
1346
score
100.0
distance
46.65447
seq distance
1005
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473258.
original residue
M
variation residue
L
position
1487
score
100.0
distance
46.741776
seq distance
1146
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473258.
original residue
M
variation residue
L
position
1487
score
100.0
distance
46.741776
seq distance
1146
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473232.
original residue
M
variation residue
R
position
1351
score
100.0
distance
46.790928
seq distance
1010
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473232.
original residue
M
variation residue
R
position
1351
score
100.0
distance
46.790928
seq distance
1010
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473222.
original residue
A
variation residue
S
position
1326
score
100.0
distance
46.838753
seq distance
985
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473222.
original residue
A
variation residue
S
position
1326
score
100.0
distance
46.838753
seq distance
985
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473179.
original residue
L
variation residue
P
position
935
score
100.0
distance
46.869267
seq distance
594
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473179.
original residue
L
variation residue
P
position
935
score
100.0
distance
46.869267
seq distance
594
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473569.
original residue
A
variation residue
E
position
413
score
100.0
distance
47.09047
seq distance
72
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473110.
original residue
A
variation residue
T
position
413
score
100.0
distance
47.09047
seq distance
72
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473569.
original residue
A
variation residue
E
position
413
score
100.0
distance
47.09047
seq distance
72
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473110.
original residue
A
variation residue
T
position
413
score
100.0
distance
47.09047
seq distance
72
chain
B
In SSS1 and BRGDA1; dbSNP:rs45620037.
original residue
T
variation residue
I
position
220
score
100.0
distance
47.399445
seq distance
106
chain
B
In SSS1 and BRGDA1; dbSNP:rs45620037.
original residue
T
variation residue
I
position
220
score
100.0
distance
47.399445
seq distance
106
chain
B
In CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials; dbSNP:rs137854618.
original residue
D
variation residue
N
position
1275
score
100.0
distance
47.446995
seq distance
934
chain
B
In CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials; dbSNP:rs137854618.
original residue
D
variation residue
N
position
1275
score
100.0
distance
47.446995
seq distance
934
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473217.
original residue
A
variation residue
G
position
1288
score
100.0
distance
47.561214
seq distance
947
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473217.
original residue
A
variation residue
G
position
1288
score
100.0
distance
47.561214
seq distance
947
chain
B
In LQT3; dbSNP:rs28937317.
original residue
N
variation residue
S
position
1325
score
100.0
distance
47.569202
seq distance
984
chain
B
In LQT3; dbSNP:rs28937317.
original residue
N
variation residue
S
position
1325
score
100.0
distance
47.569202
seq distance
984
chain
B
Rare variant found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41276525.
original residue
S
variation residue
L
position
216
score
100.0
distance
47.685474
seq distance
110
chain
B
Rare variant found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41276525.
original residue
S
variation residue
L
position
216
score
100.0
distance
47.685474
seq distance
110
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs41311127.
original residue
F
variation residue
S
position
1293
score
100.0
distance
47.720097
seq distance
952
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs41311127.
original residue
F
variation residue
S
position
1293
score
100.0
distance
47.720097
seq distance
952
chain
B
In LQT3; drug-induced LQT syndrome; dbSNP:rs45589741.
original residue
F
variation residue
L
position
1250
score
100.0
distance
47.756645
seq distance
909
chain
B
In LQT3; drug-induced LQT syndrome; dbSNP:rs45589741.
original residue
F
variation residue
L
position
1250
score
100.0
distance
47.756645
seq distance
909
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473228.
original residue
F
variation residue
L
position
1344
score
100.0
distance
47.759502
seq distance
1003
chain
B
In BRGDA1; dbSNP:rs199473229.
original residue
F
variation residue
S
position
1344
score
100.0
distance
47.759502
seq distance
1003
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473228.
original residue
F
variation residue
L
position
1344
score
100.0
distance
47.759502
seq distance
1003
chain
B
In BRGDA1; dbSNP:rs199473229.
original residue
F
variation residue
S
position
1344
score
100.0
distance
47.759502
seq distance
1003
chain
B
In dbSNP:rs199473191.
original residue
V
variation residue
L
position
1284
score
50.0
distance
47.787
seq distance
943
chain
B
In dbSNP:rs199473191.
original residue
V
variation residue
L
position
1284
score
50.0
distance
47.787
seq distance
943
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473259.
original residue
T
variation residue
R
position
1488
score
100.0
distance
47.7967
seq distance
1147
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473259.
original residue
T
variation residue
R
position
1488
score
100.0
distance
47.7967
seq distance
1147
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473216.
original residue
L
variation residue
M
position
1283
score
100.0
distance
48.023643
seq distance
942
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473216.
original residue
L
variation residue
M
position
1283
score
100.0
distance
48.023643
seq distance
942
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473213.
original residue
V
variation residue
D
position
1249
score
100.0
distance
48.17994
seq distance
908
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473213.
original residue
V
variation residue
D
position
1249
score
100.0
distance
48.17994
seq distance
908
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473620.
original residue
E
variation residue
K
position
1574
score
100.0
distance
48.203007
seq distance
1233
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473620.
original residue
E
variation residue
K
position
1574
score
100.0
distance
48.203007
seq distance
1233
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
P
position
1330
score
100.0
distance
48.23347
seq distance
989
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
T
position
1330
score
100.0
distance
48.23347
seq distance
989
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
P
position
1330
score
100.0
distance
48.23347
seq distance
989
chain
B
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
T
position
1330
score
100.0
distance
48.23347
seq distance
989
chain
B
In LQT3; dbSNP:rs199473321.
original residue
D
variation residue
G
position
1280
score
50.0
distance
48.597652
seq distance
939
chain
B
In LQT3; dbSNP:rs199473321.
original residue
D
variation residue
G
position
1280
score
50.0
distance
48.597652
seq distance
939
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473254.
original residue
V
variation residue
F
position
1468
score
100.0
distance
48.821896
seq distance
1127
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41315493.
original residue
V
variation residue
L
position
1468
score
54.54545454545454
distance
48.821896
seq distance
1127
chain
B
In ATFB10; dbSNP:rs41315493.
original residue
V
variation residue
M
position
1468
score
54.54545454545454
distance
48.821896
seq distance
1127
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473254.
original residue
V
variation residue
F
position
1468
score
100.0
distance
48.821896
seq distance
1127
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41315493.
original residue
V
variation residue
L
position
1468
score
54.54545454545454
distance
48.821896
seq distance
1127
chain
B
In ATFB10; dbSNP:rs41315493.
original residue
V
variation residue
M
position
1468
score
54.54545454545454
distance
48.821896
seq distance
1127
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473166.
original residue
I
variation residue
F
position
848
score
100.0
distance
48.853485
seq distance
507
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473166.
original residue
I
variation residue
F
position
848
score
100.0
distance
48.853485
seq distance
507
chain
B
In LQT3; dbSNP:rs199473256.
original residue
F
variation residue
C
position
1473
score
100.0
distance
49.268112
seq distance
1132
chain
B
In LQT3; dbSNP:rs199473256.
original residue
F
variation residue
C
position
1473
score
100.0
distance
49.268112
seq distance
1132
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473618.
original residue
V
variation residue
I
position
1532
score
100.0
distance
49.366554
seq distance
1191
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473618.
original residue
V
variation residue
I
position
1532
score
100.0
distance
49.366554
seq distance
1191
chain
B
In BRGDA1; dbSNP:rs199473261.
original residue
Y
variation residue
N
position
1494
score
100.0
distance
49.62694
seq distance
1153
chain
B
In BRGDA1; dbSNP:rs199473261.
original residue
Y
variation residue
N
position
1494
score
100.0
distance
49.62694
seq distance
1153
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473052.
original residue
F
variation residue
S
position
221
score
50.0
distance
49.661697
seq distance
105
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473052.
original residue
F
variation residue
S
position
221
score
50.0
distance
49.661697
seq distance
105
chain
B
Found in a patient with long QT syndrome; unknown pathological significance; dbSNP:rs199473263.
original residue
M
variation residue
T
position
1498
score
100.0
distance
49.722687
seq distance
1157
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473264.
original residue
M
variation residue
V
position
1498
score
100.0
distance
49.722687
seq distance
1157
chain
B
Found in a patient with long QT syndrome; unknown pathological significance; dbSNP:rs199473263.
original residue
M
variation residue
T
position
1498
score
100.0
distance
49.722687
seq distance
1157
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473264.
original residue
M
variation residue
V
position
1498
score
100.0
distance
49.722687
seq distance
1157
chain
B
In LQT3 and SIDS; dbSNP:rs199473604.
original residue
S
variation residue
Y
position
1333
score
100.0
distance
49.767307
seq distance
992
chain
B
In LQT3 and SIDS; dbSNP:rs199473604.
original residue
S
variation residue
Y
position
1333
score
100.0
distance
49.767307
seq distance
992
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473262.
original residue
Y
variation residue
S
position
1495
score
100.0
distance
49.844715
seq distance
1154
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473262.
original residue
Y
variation residue
S
position
1495
score
100.0
distance
49.844715
seq distance
1154
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473601.
original residue
W
variation residue
C
position
1271
score
100.0
distance
49.92669
seq distance
930
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473601.
original residue
W
variation residue
C
position
1271
score
100.0
distance
49.92669
seq distance
930
chain
B
In LQT3; dbSNP:rs199473314.
original residue
V
variation residue
M
position
1777
score
90.9090909090909
distance
49.986492
seq distance
1436
chain
B
In LQT3; dbSNP:rs199473314.
original residue
V
variation residue
M
position
1777
score
90.9090909090909
distance
49.986492
seq distance
1436
chain
B
In BRGDA1; dbSNP:rs137854611.
original residue
A
variation residue
E
position
735
score
100.0
distance
50.125553
seq distance
394
chain
B
In BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs137854611.
original residue
A
variation residue
V
position
735
score
100.0
distance
50.125553
seq distance
394
chain
B
In BRGDA1; dbSNP:rs137854611.
original residue
A
variation residue
E
position
735
score
100.0
distance
50.125553
seq distance
394
chain
B
In BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs137854611.
original residue
A
variation residue
V
position
735
score
100.0
distance
50.125553
seq distance
394
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473560.
original residue
V
variation residue
L
position
223
score
100.0
distance
50.178925
seq distance
103
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473560.
original residue
V
variation residue
L
position
223
score
100.0
distance
50.178925
seq distance
103
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473225.
original residue
P
variation residue
L
position
1332
score
100.0
distance
50.523525
seq distance
991
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473225.
original residue
P
variation residue
L
position
1332
score
100.0
distance
50.523525
seq distance
991
chain
B
In dbSNP:rs199473600.
original residue
V
variation residue
M
position
1251
score
100.0
distance
50.57101
seq distance
910
chain
B
In dbSNP:rs199473600.
original residue
V
variation residue
M
position
1251
score
100.0
distance
50.57101
seq distance
910
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473255.
original residue
N
variation residue
S
position
1472
score
100.0
distance
50.825798
seq distance
1131
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473255.
original residue
N
variation residue
S
position
1472
score
100.0
distance
50.825798
seq distance
1131
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473616.
original residue
E
variation residue
D
position
1489
score
100.0
distance
51.26707
seq distance
1148
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473616.
original residue
E
variation residue
D
position
1489
score
100.0
distance
51.26707
seq distance
1148
chain
B
In LQT3; dbSNP:rs199473077.
original residue
Q
variation residue
K
position
245
score
100.0
distance
51.552704
seq distance
81
chain
B
In LQT3; dbSNP:rs199473077.
original residue
Q
variation residue
K
position
245
score
100.0
distance
51.552704
seq distance
81
chain
B
In BRGDA1; dbSNP:rs199473267.
original residue
G
variation residue
S
position
1502
score
100.0
distance
51.634228
seq distance
1161
chain
B
In BRGDA1; dbSNP:rs199473267.
original residue
G
variation residue
S
position
1502
score
100.0
distance
51.634228
seq distance
1161
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473266.
original residue
L
variation residue
V
position
1501
score
100.0
distance
51.764523
seq distance
1160
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473266.
original residue
L
variation residue
V
position
1501
score
100.0
distance
51.764523
seq distance
1160
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473214.
original residue
E
variation residue
G
position
1253
score
100.0
distance
51.76543
seq distance
912
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473214.
original residue
E
variation residue
G
position
1253
score
100.0
distance
51.76543
seq distance
912
chain
B
In BRGDA1 and LQT3; dbSNP:rs45546039.
original residue
R
variation residue
Q
position
222
score
100.0
distance
52.112328
seq distance
104
chain
B
In BRGDA1 and LQT3; dbSNP:rs45546039.
original residue
R
variation residue
Q
position
222
score
100.0
distance
52.112328
seq distance
104
chain
B
Phosphoserine
position
805
score
59.09090909090909
distance
52.22574
seq distance
464
chain
B
Phosphoserine
position
805
score
59.09090909090909
distance
52.22574
seq distance
464
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473076.
original residue
V
variation residue
M
position
240
score
100.0
distance
52.34473
seq distance
86
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473076.
original residue
V
variation residue
M
position
240
score
100.0
distance
52.34473
seq distance
86
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473260.
original residue
K
variation residue
R
position
1493
score
100.0
distance
52.53044
seq distance
1152
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473260.
original residue
K
variation residue
R
position
1493
score
100.0
distance
52.53044
seq distance
1152
chain
B
In BRGDA1; dbSNP:rs199473561.
original residue
A
variation residue
V
position
226
score
100.0
distance
52.54999
seq distance
100
chain
B
In BRGDA1; dbSNP:rs199473561.
original residue
A
variation residue
V
position
226
score
100.0
distance
52.54999
seq distance
100
chain
B
Induces accelerated recovery from channel fast inactivation.
original residue
Q
variation residue
K
position
1476
score
100.0
distance
53.11651
seq distance
1135
chain
B
Induces accelerated recovery from channel fast inactivation.
original residue
Q
variation residue
K
position
1476
score
100.0
distance
53.11651
seq distance
1135
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473061.
original residue
V
variation residue
M
position
146
score
100.0
distance
53.33192
seq distance
180
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473061.
original residue
V
variation residue
M
position
146
score
100.0
distance
53.33192
seq distance
180
chain
B
In LQT3; also in SIDS; dbSNP:rs137854605.
original residue
S
variation residue
N
position
941
score
81.81818181818183
distance
53.738148
seq distance
600
chain
B
In LQT3; also in SIDS; dbSNP:rs137854605.
original residue
S
variation residue
N
position
941
score
81.81818181818183
distance
53.738148
seq distance
600
chain
B
In LQT3; dbSNP:rs199473070.
original residue
L
variation residue
P
position
212
score
100.0
distance
54.141964
seq distance
114
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473070.
original residue
L
variation residue
Q
position
212
score
100.0
distance
54.141964
seq distance
114
chain
B
In LQT3; dbSNP:rs199473070.
original residue
L
variation residue
P
position
212
score
100.0
distance
54.141964
seq distance
114
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473070.
original residue
L
variation residue
Q
position
212
score
100.0
distance
54.141964
seq distance
114
chain
B
In dbSNP:rs199473265.
original residue
K
variation residue
N
position
1500
score
100.0
distance
54.248222
seq distance
1159
chain
B
In BRGDA1.
original residue
variation residue
position
1500
score
100.0
distance
54.248222
seq distance
1159
chain
B
In dbSNP:rs199473265.
original residue
K
variation residue
N
position
1500
score
100.0
distance
54.248222
seq distance
1159
chain
B
In BRGDA1.
original residue
variation residue
position
1500
score
100.0
distance
54.248222
seq distance
1159
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473634.
original residue
T
variation residue
M
position
1779
score
72.72727272727273
distance
54.283936
seq distance
1438
chain
B
In LQT3 and BRGDA1; dbSNP:rs199473634.
original residue
T
variation residue
M
position
1779
score
72.72727272727273
distance
54.283936
seq distance
1438
chain
B
Phosphoserine; by PKC
position
1503
score
100.0
distance
54.300266
seq distance
1162
chain
B
Phosphoserine; by PKC
position
1503
score
100.0
distance
54.300266
seq distance
1162
chain
B
In LQT3; dbSNP:rs199473071.
original residue
R
variation residue
Q
position
225
score
100.0
distance
54.405403
seq distance
101
chain
B
In PFHB1A, BRGDA1 and LQT3; dbSNP:rs199473072.
original residue
R
variation residue
W
position
225
score
100.0
distance
54.405403
seq distance
101
chain
B
In LQT3; dbSNP:rs199473071.
original residue
R
variation residue
Q
position
225
score
100.0
distance
54.405403
seq distance
101
chain
B
In PFHB1A, BRGDA1 and LQT3; dbSNP:rs199473072.
original residue
R
variation residue
W
position
225
score
100.0
distance
54.405403
seq distance
101
chain
B
In BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no domiFalset negative effect.
original residue
L
variation residue
Q
position
812
score
100.0
distance
54.470226
seq distance
471
chain
B
In BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no domiFalset negative effect.
original residue
L
variation residue
Q
position
812
score
100.0
distance
54.470226
seq distance
471
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473164.
original residue
L
variation residue
P
position
839
score
100.0
distance
54.769592
seq distance
498
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473164.
original residue
L
variation residue
P
position
839
score
100.0
distance
54.769592
seq distance
498
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473150.
original residue
T
variation residue
I
position
731
score
100.0
distance
54.81137
seq distance
390
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473150.
original residue
T
variation residue
I
position
731
score
100.0
distance
54.81137
seq distance
390
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473160.
original residue
R
variation residue
P
position
808
score
100.0
distance
54.95168
seq distance
467
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473160.
original residue
R
variation residue
P
position
808
score
100.0
distance
54.95168
seq distance
467
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473056.
original residue
N
variation residue
K
position
1269
score
54.54545454545454
distance
55.323296
seq distance
928
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473056.
original residue
N
variation residue
K
position
1269
score
54.54545454545454
distance
55.323296
seq distance
928
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473269.
original residue
V
variation residue
M
position
1525
score
100.0
distance
55.44358
seq distance
1184
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473269.
original residue
V
variation residue
M
position
1525
score
100.0
distance
55.44358
seq distance
1184
chain
B
In BRGDA1; dbSNP:rs199473074.
original residue
I
variation residue
V
position
230
score
100.0
distance
55.756462
seq distance
96
chain
B
In BRGDA1; dbSNP:rs199473074.
original residue
I
variation residue
V
position
230
score
100.0
distance
55.756462
seq distance
96
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473582.
original residue
E
variation residue
K
position
746
score
100.0
distance
56.25401
seq distance
405
chain
B
In dbSNP:rs199473193.
original residue
E
variation residue
K
position
746
score
50.0
distance
56.25401
seq distance
405
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473582.
original residue
E
variation residue
K
position
746
score
100.0
distance
56.25401
seq distance
405
chain
B
In dbSNP:rs199473193.
original residue
E
variation residue
K
position
746
score
50.0
distance
56.25401
seq distance
405
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473162.
original residue
F
variation residue
Y
position
816
score
100.0
distance
56.420433
seq distance
475
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473162.
original residue
F
variation residue
Y
position
816
score
100.0
distance
56.420433
seq distance
475
chain
B
In LQT3.
original residue
variation residue
begin
1505
end
1507
score
100.0
distance
56.528343
seq distance
1164
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473268.
original residue
K
variation residue
N
position
1505
score
100.0
distance
56.528343
seq distance
1164
chain
B
In LQT3.
original residue
variation residue
begin
1505
end
1507
score
100.0
distance
56.528343
seq distance
1164
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473268.
original residue
K
variation residue
N
position
1505
score
100.0
distance
56.528343
seq distance
1164
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473275.
original residue
L
variation residue
P
position
1582
score
100.0
distance
56.95961
seq distance
1241
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473275.
original residue
L
variation residue
P
position
1582
score
100.0
distance
56.95961
seq distance
1241
chain
B
In BRGDA1; asymptomatic patient; associated with P-1569; dbSNP:rs199473270.
original residue
K
variation residue
R
position
1527
score
100.0
distance
57.221706
seq distance
1186
chain
B
In BRGDA1; asymptomatic patient; associated with P-1569; dbSNP:rs199473270.
original residue
K
variation residue
R
position
1527
score
100.0
distance
57.221706
seq distance
1186
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45514691.
original residue
R
variation residue
C
position
1583
score
100.0
distance
57.287983
seq distance
1242
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473621.
original residue
R
variation residue
H
position
1583
score
100.0
distance
57.287983
seq distance
1242
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45514691.
original residue
R
variation residue
C
position
1583
score
100.0
distance
57.287983
seq distance
1242
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473621.
original residue
R
variation residue
H
position
1583
score
100.0
distance
57.287983
seq distance
1242
chain
B
In BRGDA1.
original residue
variation residue
position
1479
score
100.0
distance
57.804085
seq distance
1138
chain
B
In BRGDA1.
original residue
variation residue
position
1479
score
100.0
distance
57.804085
seq distance
1138
chain
B
In BRGDA1; dbSNP:rs199473584.
original residue
R
variation residue
Q
position
814
score
100.0
distance
57.89799
seq distance
473
chain
B
In BRGDA1; dbSNP:rs199473584.
original residue
R
variation residue
Q
position
814
score
100.0
distance
57.89799
seq distance
473
chain
B
In LQT3; dbSNP:rs199473257.
original residue
G
variation residue
E
position
1481
score
100.0
distance
58.172985
seq distance
1140
chain
B
In LQT3; dbSNP:rs199473257.
original residue
G
variation residue
E
position
1481
score
100.0
distance
58.172985
seq distance
1140
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473559.
original residue
A
variation residue
V
position
204
score
100.0
distance
58.638607
seq distance
122
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473559.
original residue
A
variation residue
V
position
204
score
100.0
distance
58.638607
seq distance
122
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473617.
original residue
I
variation residue
K
position
1521
score
100.0
distance
59.088306
seq distance
1180
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473617.
original residue
I
variation residue
K
position
1521
score
100.0
distance
59.088306
seq distance
1180
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473062.
original residue
E
variation residue
K
position
161
score
100.0
distance
59.649845
seq distance
165
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473062.
original residue
E
variation residue
Q
position
161
score
100.0
distance
59.649845
seq distance
165
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473062.
original residue
E
variation residue
K
position
161
score
100.0
distance
59.649845
seq distance
165
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473062.
original residue
E
variation residue
Q
position
161
score
100.0
distance
59.649845
seq distance
165
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473152.
original residue
Q
variation residue
R
position
750
score
100.0
distance
59.988472
seq distance
409
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473152.
original residue
Q
variation residue
R
position
750
score
100.0
distance
59.988472
seq distance
409
chain
B
In BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation.
original residue
K
variation residue
E
position
817
score
100.0
distance
60.00431
seq distance
476
chain
B
In BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation.
original residue
K
variation residue
E
position
817
score
100.0
distance
60.00431
seq distance
476
chain
B
In LQT3.
original residue
variation residue
begin
1507
end
1509
score
100.0
distance
60.332863
seq distance
1166
chain
B
In LQT3.
original residue
variation residue
begin
1507
end
1509
score
100.0
distance
60.332863
seq distance
1166
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45471994.
original residue
V
variation residue
I
position
232
score
100.0
distance
60.97488
seq distance
94
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs45471994.
original residue
V
variation residue
I
position
232
score
100.0
distance
60.97488
seq distance
94
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473202.
original residue
Y
variation residue
S
position
1199
score
100.0
distance
61.424248
seq distance
858
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473202.
original residue
Y
variation residue
S
position
1199
score
100.0
distance
61.424248
seq distance
858
chain
B
In ATFB10; dbSNP:rs199473060.
original residue
M
variation residue
I
position
138
score
100.0
distance
61.60899
seq distance
188
chain
B
In ATFB10; dbSNP:rs199473060.
original residue
M
variation residue
I
position
138
score
100.0
distance
61.60899
seq distance
188
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473153.
original residue
G
variation residue
R
position
752
score
100.0
distance
61.763546
seq distance
411
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs199473153.
original residue
G
variation residue
R
position
752
score
100.0
distance
61.763546
seq distance
411
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs137854616.
original residue
G
variation residue
S
position
1262
score
100.0
distance
62.779644
seq distance
921
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs137854616.
original residue
G
variation residue
S
position
1262
score
100.0
distance
62.779644
seq distance
921
chain
B
In BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke; dbSNP:rs137854602.
original residue
R
variation residue
W
position
1512
score
100.0
distance
64.67438
seq distance
1171
chain
B
In BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke; dbSNP:rs137854602.
original residue
R
variation residue
W
position
1512
score
100.0
distance
64.67438
seq distance
1171
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473159.
original residue
V
variation residue
I
position
789
score
100.0
distance
65.509605
seq distance
448
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473159.
original residue
V
variation residue
I
position
789
score
100.0
distance
65.509605
seq distance
448
chain
B
In dbSNP:rs199473125.
original residue
R
variation residue
H
position
1195
score
50.0
distance
66.15478
seq distance
854
chain
B
In dbSNP:rs199473125.
original residue
R
variation residue
H
position
1195
score
50.0
distance
66.15478
seq distance
854
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473557.
original residue
L
variation residue
P
position
136
score
100.0
distance
66.492294
seq distance
190
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473557.
original residue
L
variation residue
P
position
136
score
100.0
distance
66.492294
seq distance
190
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs137854606.
original residue
G
variation residue
C
position
797
score
50.0
distance
67.11338
seq distance
456
chain
B
In BRGDA1 and PFHB1A; dbSNP:rs137854606.
original residue
G
variation residue
C
position
797
score
50.0
distance
67.11338
seq distance
456
chain
B
In BRGDA1; dbSNP:rs199473124.
original residue
L
variation residue
Q
position
1194
score
50.0
distance
67.72309
seq distance
853
chain
B
In BRGDA1; dbSNP:rs199473124.
original residue
L
variation residue
Q
position
1194
score
50.0
distance
67.72309
seq distance
853
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473154.
original residue
G
variation residue
E
position
758
score
100.0
distance
68.66973
seq distance
417
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473154.
original residue
G
variation residue
E
position
758
score
100.0
distance
68.66973
seq distance
417
chain
B
In ATFB10; dbSNP:rs199473111.
original residue
E
variation residue
K
position
428
score
63.63636363636363
distance
68.81146
seq distance
87
chain
B
In ATFB10; dbSNP:rs199473111.
original residue
E
variation residue
K
position
428
score
63.63636363636363
distance
68.81146
seq distance
87
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473067.
original residue
A
variation residue
V
position
185
score
100.0
distance
68.81276
seq distance
141
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473067.
original residue
A
variation residue
V
position
185
score
100.0
distance
68.81276
seq distance
141
chain
B
In BRGDA1; loss of function; dbSNP:rs199473558.
original residue
T
variation residue
I
position
187
score
100.0
distance
69.60797
seq distance
139
chain
B
In BRGDA1; loss of function; dbSNP:rs199473558.
original residue
T
variation residue
I
position
187
score
100.0
distance
69.60797
seq distance
139
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473063.
original residue
K
variation residue
N
position
175
score
100.0
distance
69.76257
seq distance
151
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473063.
original residue
K
variation residue
N
position
175
score
100.0
distance
69.76257
seq distance
151
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
G
position
1193
score
50.0
distance
70.43898
seq distance
852
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473554.
original residue
R
variation residue
Q
position
1193
score
50.0
distance
70.43898
seq distance
852
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
W
position
1193
score
50.0
distance
70.43898
seq distance
852
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344.
original residue
R
variation residue
Q
position
1193
score
100.0
distance
70.43898
seq distance
852
chain
B
In LQT3; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
G
position
1193
score
50.0
distance
70.43898
seq distance
852
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473554.
original residue
R
variation residue
Q
position
1193
score
50.0
distance
70.43898
seq distance
852
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
W
position
1193
score
50.0
distance
70.43898
seq distance
852
chain
B
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344.
original residue
R
variation residue
Q
position
1193
score
100.0
distance
70.43898
seq distance
852
chain
B
In LQT3; unknown pathological significance; dbSNP:rs761375502.
original residue
variation residue
position
429
score
54.54545454545454
distance
70.9856
seq distance
88
chain
B
In LQT3; unknown pathological significance; dbSNP:rs761375502.
original residue
variation residue
position
429
score
54.54545454545454
distance
70.9856
seq distance
88
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473156.
original residue
M
variation residue
R
position
764
score
100.0
distance
71.71071
seq distance
423
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473156.
original residue
M
variation residue
R
position
764
score
100.0
distance
71.71071
seq distance
423
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473149.
original residue
P
variation residue
L
position
717
score
100.0
distance
73.12178
seq distance
376
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473149.
original residue
P
variation residue
L
position
717
score
100.0
distance
73.12178
seq distance
376
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473066.
original residue
C
variation residue
R
position
182
score
100.0
distance
73.73755
seq distance
144
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473066.
original residue
C
variation residue
R
position
182
score
100.0
distance
73.73755
seq distance
144
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473065.
original residue
A
variation residue
G
position
178
score
100.0
distance
74.61852
seq distance
148
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473065.
original residue
A
variation residue
G
position
178
score
100.0
distance
74.61852
seq distance
148
chain
B
In LQT3; dbSNP:rs199473059.
original residue
V
variation residue
L
position
125
score
100.0
distance
76.56432
seq distance
201
chain
B
In LQT3; dbSNP:rs199473059.
original residue
V
variation residue
L
position
125
score
100.0
distance
76.56432
seq distance
201
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473158.
original residue
P
variation residue
S
position
773
score
100.0
distance
78.08275
seq distance
432
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473158.
original residue
P
variation residue
S
position
773
score
100.0
distance
78.08275
seq distance
432
chain
B
In BRGDA1; dbSNP:rs185492581.
original residue
K
variation residue
E
position
126
score
100.0
distance
78.10061
seq distance
200
chain
B
In BRGDA1; dbSNP:rs185492581.
original residue
K
variation residue
E
position
126
score
100.0
distance
78.10061
seq distance
200
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473058.
original residue
R
variation residue
Q
position
121
score
72.72727272727273
distance
79.93364
seq distance
205
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473556.
original residue
R
variation residue
W
position
121
score
72.72727272727273
distance
79.93364
seq distance
205
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473058.
original residue
R
variation residue
Q
position
121
score
72.72727272727273
distance
79.93364
seq distance
205
chain
B
In BRGDA1; unknown pathological significance; dbSNP:rs199473556.
original residue
R
variation residue
W
position
121
score
72.72727272727273
distance
79.93364
seq distance
205
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473157.
original residue
D
variation residue
N
position
772
score
100.0
distance
80.96598
seq distance
431
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473157.
original residue
D
variation residue
N
position
772
score
100.0
distance
80.96598
seq distance
431
chain
B
In dbSNP:rs199473148.
original residue
S
variation residue
F
position
705
score
100.0
distance
90.13786
seq distance
364
chain
B
In dbSNP:rs199473148.
original residue
S
variation residue
F
position
705
score
100.0
distance
90.13786
seq distance
364
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473147.
original residue
P
variation residue
L
position
701
score
72.72727272727273
distance
94.50587
seq distance
360
chain
B
In BRGDA1 and LQT3; dbSNP:rs199473147.
original residue
P
variation residue
L
position
701
score
72.72727272727273
distance
94.50587
seq distance
360
chain
B

Details

Redox score
71.91
PDB code
6lqa
Structure name
voltage-gated sodium channel nav1.5 with quinidine
Structure deposition date
2020-01-13
Thiol separation (Å)
4.01
Half-sphere exposure sum
72
Minimum pKa
nan
% buried
nan
Peptide accession
Q14524
Residue number A
326
Residue number B
341
Peptide name
Sodium channel protein type 5 subunit alpha
A redox-regulated disulphide may form within Sodium channel protein type 5 subunit alpha at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.

Relevent regions

In LQT3; unknown pathological significance; dbSNP:rs199473094.
original residue
R
variation residue
W
position
340
score
100.0
distance
4.966641
seq distance
1
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473094.
original residue
R
variation residue
W
position
340
score
100.0
distance
4.966641
seq distance
1
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473092.
original residue
L
variation residue
R
position
325
score
100.0
distance
5.424679
seq distance
16
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473092.
original residue
L
variation residue
R
position
325
score
100.0
distance
5.424679
seq distance
16
chain
A
In BRGDA1; severe reduction of sodium currents; dbSNP:rs199473093.
original residue
P
variation residue
L
position
336
score
100.0
distance
6.0138254
seq distance
5
chain
A
In BRGDA1; severe reduction of sodium currents; dbSNP:rs199473093.
original residue
P
variation residue
L
position
336
score
100.0
distance
6.0138254
seq distance
5
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473564.
original residue
L
variation residue
P
position
315
score
100.0
distance
6.4682317
seq distance
26
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473564.
original residue
L
variation residue
P
position
315
score
100.0
distance
6.4682317
seq distance
26
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473562.
original residue
H
variation residue
D
position
278
score
100.0
distance
7.91906
seq distance
2
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473562.
original residue
H
variation residue
D
position
278
score
100.0
distance
7.91906
seq distance
2
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473082.
original residue
R
variation residue
C
position
282
score
100.0
distance
8.602386
seq distance
2
chain
A
In BRGDA1; dbSNP:rs199473083.
original residue
R
variation residue
H
position
282
score
100.0
distance
8.602386
seq distance
2
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473082.
original residue
R
variation residue
C
position
282
score
100.0
distance
8.602386
seq distance
2
chain
A
In BRGDA1; dbSNP:rs199473083.
original residue
R
variation residue
H
position
282
score
100.0
distance
8.602386
seq distance
2
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473080.
original residue
N
variation residue
K
position
275
score
100.0
distance
12.225675
seq distance
5
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473080.
original residue
N
variation residue
K
position
275
score
100.0
distance
12.225675
seq distance
5
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473081.
original residue
L
variation residue
Q
position
276
score
100.0
distance
12.442849
seq distance
4
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473081.
original residue
L
variation residue
Q
position
276
score
100.0
distance
12.442849
seq distance
4
chain
A
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; no effect on voltage dependence for activation and inactivation; dbSNP:rs1060499900.
original residue
D
variation residue
N
position
1690
score
100.0
distance
12.5679
seq distance
1349
chain
A
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; no effect on voltage dependence for activation and inactivation; dbSNP:rs1060499900.
original residue
D
variation residue
N
position
1690
score
100.0
distance
12.5679
seq distance
1349
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473567.
original residue
G
variation residue
E
position
386
score
100.0
distance
12.581494
seq distance
45
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473102.
original residue
G
variation residue
R
position
386
score
100.0
distance
12.581494
seq distance
45
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473567.
original residue
G
variation residue
E
position
386
score
100.0
distance
12.581494
seq distance
45
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473102.
original residue
G
variation residue
R
position
386
score
100.0
distance
12.581494
seq distance
45
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473091.
original residue
T
variation residue
N
position
320
score
100.0
distance
14.383901
seq distance
21
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473091.
original residue
T
variation residue
N
position
320
score
100.0
distance
14.383901
seq distance
21
chain
A
In LQT3; dbSNP:rs199473043.
original residue
G
variation residue
V
position
319
score
50.0
distance
14.973009
seq distance
22
chain
A
In BRGDA1; dbSNP:rs199473090.
original residue
G
variation residue
S
position
319
score
100.0
distance
14.973009
seq distance
22
chain
A
In LQT3; dbSNP:rs199473043.
original residue
G
variation residue
V
position
319
score
50.0
distance
14.973009
seq distance
22
chain
A
In BRGDA1; dbSNP:rs199473090.
original residue
G
variation residue
S
position
319
score
100.0
distance
14.973009
seq distance
22
chain
A
In LQT3 and BRGDA1.
original residue
variation residue
position
1617
score
100.0
distance
15.188414
seq distance
1276
chain
A
In LQT3 and BRGDA1.
original residue
variation residue
position
1617
score
100.0
distance
15.188414
seq distance
1276
chain
A
In LQT3 and PFHB1A; dbSNP:rs199473282.
original residue
T
variation residue
K
position
1620
score
100.0
distance
16.951942
seq distance
1279
chain
A
In BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range; dbSNP:rs199473282.
original residue
T
variation residue
M
position
1620
score
100.0
distance
16.951942
seq distance
1279
chain
A
In LQT3 and PFHB1A; dbSNP:rs199473282.
original residue
T
variation residue
K
position
1620
score
100.0
distance
16.951942
seq distance
1279
chain
A
In BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range; dbSNP:rs199473282.
original residue
T
variation residue
M
position
1620
score
100.0
distance
16.951942
seq distance
1279
chain
A
In dbSNP:rs199473100.
original residue
R
variation residue
C
position
376
score
100.0
distance
17.182034
seq distance
35
chain
A
In BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation; dbSNP:rs199473101.
original residue
R
variation residue
H
position
376
score
100.0
distance
17.182034
seq distance
35
chain
A
In dbSNP:rs199473100.
original residue
R
variation residue
C
position
376
score
100.0
distance
17.182034
seq distance
35
chain
A
In BRGDA1; unknown pathological significance; also found in patients with atrial fibrillation; dbSNP:rs199473101.
original residue
R
variation residue
H
position
376
score
100.0
distance
17.182034
seq distance
35
chain
A
In BRGDA1; dbSNP:rs199473096.
original residue
T
variation residue
I
position
353
score
100.0
distance
18.26511
seq distance
12
chain
A
In BRGDA1; dbSNP:rs199473096.
original residue
T
variation residue
I
position
353
score
100.0
distance
18.26511
seq distance
12
chain
A
In dbSNP:rs61746118.
original residue
A
variation residue
S
position
286
score
100.0
distance
18.570473
seq distance
6
chain
A
In dbSNP:rs61746118.
original residue
A
variation residue
S
position
286
score
100.0
distance
18.570473
seq distance
6
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473095.
original residue
G
variation residue
D
position
351
score
100.0
distance
18.581638
seq distance
10
chain
A
In BRGDA1; 7-fold current reduction; dbSNP:rs199473095.
original residue
G
variation residue
V
position
351
score
100.0
distance
18.581638
seq distance
10
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473095.
original residue
G
variation residue
D
position
351
score
100.0
distance
18.581638
seq distance
10
chain
A
In BRGDA1; 7-fold current reduction; dbSNP:rs199473095.
original residue
G
variation residue
V
position
351
score
100.0
distance
18.581638
seq distance
10
chain
A
In PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance; dbSNP:rs137854608.
original residue
G
variation residue
S
position
298
score
100.0
distance
19.091595
seq distance
18
chain
A
In PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance; dbSNP:rs137854608.
original residue
G
variation residue
S
position
298
score
100.0
distance
19.091595
seq distance
18
chain
A
In BRGDA1; loss of function; dbSNP:rs199473565.
original residue
D
variation residue
N
position
356
score
100.0
distance
19.829468
seq distance
15
chain
A
In BRGDA1; loss of function; dbSNP:rs199473565.
original residue
D
variation residue
N
position
356
score
100.0
distance
19.829468
seq distance
15
chain
A
In dbSNP:rs199473087.
original residue
L
variation residue
M
position
299
score
100.0
distance
20.553675
seq distance
19
chain
A
In dbSNP:rs199473087.
original residue
L
variation residue
M
position
299
score
100.0
distance
20.553675
seq distance
19
chain
A
In LQT3; dbSNP:rs137854600.
original residue
R
variation residue
L
position
1623
score
100.0
distance
20.582083
seq distance
1282
chain
A
In LQT3 and BRGDA1; dbSNP:rs137854600.
original residue
R
variation residue
Q
position
1623
score
100.0
distance
20.582083
seq distance
1282
chain
A
In LQT3; dbSNP:rs137854600.
original residue
R
variation residue
L
position
1623
score
100.0
distance
20.582083
seq distance
1282
chain
A
In LQT3 and BRGDA1; dbSNP:rs137854600.
original residue
R
variation residue
Q
position
1623
score
100.0
distance
20.582083
seq distance
1282
chain
A
In BRGDA1; dbSNP:rs199473086.
original residue
V
variation residue
M
position
294
score
100.0
distance
20.66503
seq distance
14
chain
A
In BRGDA1; dbSNP:rs199473086.
original residue
V
variation residue
M
position
294
score
100.0
distance
20.66503
seq distance
14
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473079.
original residue
Q
variation residue
K
position
270
score
100.0
distance
20.866695
seq distance
10
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473079.
original residue
Q
variation residue
K
position
270
score
100.0
distance
20.866695
seq distance
10
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473295.
original residue
A
variation residue
T
position
1698
score
100.0
distance
21.354391
seq distance
1357
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473295.
original residue
A
variation residue
T
position
1698
score
100.0
distance
21.354391
seq distance
1357
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473088.
original residue
V
variation residue
I
position
300
score
100.0
distance
21.409811
seq distance
20
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473088.
original residue
V
variation residue
I
position
300
score
100.0
distance
21.409811
seq distance
20
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473566.
original residue
W
variation residue
G
position
374
score
100.0
distance
21.901089
seq distance
33
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473566.
original residue
W
variation residue
G
position
374
score
100.0
distance
21.901089
seq distance
33
chain
A
In BRGDA1.
original residue
variation residue
position
393
score
100.0
distance
22.721704
seq distance
52
chain
A
In BRGDA1.
original residue
variation residue
position
393
score
100.0
distance
22.721704
seq distance
52
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473298.
original residue
G
variation residue
S
position
1712
score
100.0
distance
23.32339
seq distance
1371
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473298.
original residue
G
variation residue
S
position
1712
score
100.0
distance
23.32339
seq distance
1371
chain
A
4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
original residue
K
variation residue
A
position
1614
score
100.0
distance
24.01029
seq distance
1273
chain
A
4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
original residue
K
variation residue
A
position
1614
score
100.0
distance
24.01029
seq distance
1273
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473294.
original residue
A
variation residue
T
position
1680
score
100.0
distance
24.046247
seq distance
1339
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473294.
original residue
A
variation residue
T
position
1680
score
100.0
distance
24.046247
seq distance
1339
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473205.
original residue
Y
variation residue
H
position
1228
score
100.0
distance
24.282612
seq distance
887
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473205.
original residue
Y
variation residue
H
position
1228
score
100.0
distance
24.282612
seq distance
887
chain
A
In dbSNP:rs45553235.
original residue
Q
variation residue
K
position
1613
score
50.0
distance
24.484211
seq distance
1272
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473281.
original residue
Q
variation residue
L
position
1613
score
100.0
distance
24.484211
seq distance
1272
chain
A
In dbSNP:rs45553235.
original residue
Q
variation residue
K
position
1613
score
50.0
distance
24.484211
seq distance
1272
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473281.
original residue
Q
variation residue
L
position
1613
score
100.0
distance
24.484211
seq distance
1272
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473174.
original residue
E
variation residue
K
position
901
score
100.0
distance
24.712357
seq distance
560
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473174.
original residue
E
variation residue
K
position
901
score
100.0
distance
24.712357
seq distance
560
chain
A
In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation; dbSNP:rs199473627.
original residue
F
variation residue
S
position
1705
score
100.0
distance
24.943844
seq distance
1364
chain
A
In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation; dbSNP:rs199473627.
original residue
F
variation residue
S
position
1705
score
100.0
distance
24.943844
seq distance
1364
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
H
position
1626
score
100.0
distance
25.386776
seq distance
1285
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
P
position
1626
score
100.0
distance
25.386776
seq distance
1285
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
H
position
1626
score
100.0
distance
25.386776
seq distance
1285
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473283.
original residue
R
variation residue
P
position
1626
score
100.0
distance
25.386776
seq distance
1285
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473271.
original residue
E
variation residue
K
position
1548
score
100.0
distance
25.558882
seq distance
1207
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473271.
original residue
E
variation residue
K
position
1548
score
100.0
distance
25.558882
seq distance
1207
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473302.
original residue
C
variation residue
R
position
1728
score
100.0
distance
25.612268
seq distance
1387
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs193922726.
original residue
C
variation residue
W
position
1728
score
100.0
distance
25.612268
seq distance
1387
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473302.
original residue
C
variation residue
R
position
1728
score
100.0
distance
25.612268
seq distance
1387
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs193922726.
original residue
C
variation residue
W
position
1728
score
100.0
distance
25.612268
seq distance
1387
chain
A
In BRGDA1 and LQT3; express no current; dbSNP:rs199473097.
original residue
R
variation residue
C
position
367
score
100.0
distance
25.755642
seq distance
26
chain
A
In BRGDA1; express no current; dbSNP:rs28937318.
original residue
R
variation residue
H
position
367
score
100.0
distance
25.755642
seq distance
26
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs28937318.
original residue
R
variation residue
L
position
367
score
100.0
distance
25.755642
seq distance
26
chain
A
In BRGDA1 and LQT3; express no current; dbSNP:rs199473097.
original residue
R
variation residue
C
position
367
score
100.0
distance
25.755642
seq distance
26
chain
A
In BRGDA1; express no current; dbSNP:rs28937318.
original residue
R
variation residue
H
position
367
score
100.0
distance
25.755642
seq distance
26
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs28937318.
original residue
R
variation residue
L
position
367
score
100.0
distance
25.755642
seq distance
26
chain
A
In BRGDA1; strong decrease of current density; does not affect ion selectivity properties; dbSNP:rs199473628.
original residue
D
variation residue
G
position
1714
score
100.0
distance
26.091118
seq distance
1373
chain
A
In BRGDA1; strong decrease of current density; does not affect ion selectivity properties; dbSNP:rs199473628.
original residue
D
variation residue
G
position
1714
score
100.0
distance
26.091118
seq distance
1373
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473084.
original residue
G
variation residue
S
position
289
score
100.0
distance
26.17014
seq distance
9
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473084.
original residue
G
variation residue
S
position
289
score
100.0
distance
26.17014
seq distance
9
chain
A
Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
original residue
D
variation residue
A
position
1610
score
100.0
distance
27.123318
seq distance
1269
chain
A
High decrease in affinity to the sea anemone toxin anthopleurin-B.
original residue
D
variation residue
R
position
1610
score
100.0
distance
27.123318
seq distance
1269
chain
A
Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
original residue
D
variation residue
A
position
1610
score
100.0
distance
27.123318
seq distance
1269
chain
A
High decrease in affinity to the sea anemone toxin anthopleurin-B.
original residue
D
variation residue
R
position
1610
score
100.0
distance
27.123318
seq distance
1269
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473103.
original residue
V
variation residue
A
position
396
score
100.0
distance
27.198046
seq distance
55
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473104.
original residue
V
variation residue
L
position
396
score
100.0
distance
27.198046
seq distance
55
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473103.
original residue
V
variation residue
A
position
396
score
100.0
distance
27.198046
seq distance
55
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473104.
original residue
V
variation residue
L
position
396
score
100.0
distance
27.198046
seq distance
55
chain
A
In LQT3; dbSNP:rs199473598.
original residue
E
variation residue
K
position
1231
score
100.0
distance
27.366991
seq distance
890
chain
A
In LQT3; dbSNP:rs199473598.
original residue
E
variation residue
K
position
1231
score
100.0
distance
27.366991
seq distance
890
chain
A
In dbSNP:rs199473563.
original residue
N
variation residue
S
position
291
score
100.0
distance
27.401928
seq distance
11
chain
A
In dbSNP:rs199473563.
original residue
N
variation residue
S
position
291
score
100.0
distance
27.401928
seq distance
11
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473105.
original residue
I
variation residue
T
position
397
score
100.0
distance
27.609377
seq distance
56
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473105.
original residue
I
variation residue
T
position
397
score
100.0
distance
27.609377
seq distance
56
chain
A
In LQT3; dbSNP:rs199473622.
original residue
S
variation residue
W
position
1609
score
100.0
distance
27.708023
seq distance
1268
chain
A
In LQT3; dbSNP:rs199473622.
original residue
S
variation residue
W
position
1609
score
100.0
distance
27.708023
seq distance
1268
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473611.
original residue
G
variation residue
R
position
1420
score
100.0
distance
27.831924
seq distance
1079
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473611.
original residue
G
variation residue
R
position
1420
score
100.0
distance
27.831924
seq distance
1079
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473206.
original residue
R
variation residue
Q
position
1232
score
100.0
distance
27.908802
seq distance
891
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473207.
original residue
R
variation residue
W
position
1232
score
100.0
distance
27.908802
seq distance
891
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473206.
original residue
R
variation residue
Q
position
1232
score
100.0
distance
27.908802
seq distance
891
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473207.
original residue
R
variation residue
W
position
1232
score
100.0
distance
27.908802
seq distance
891
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473299.
original residue
N
variation residue
D
position
1722
score
100.0
distance
28.00533
seq distance
1381
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473299.
original residue
N
variation residue
D
position
1722
score
100.0
distance
28.00533
seq distance
1381
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473626.
original residue
S
variation residue
Y
position
1672
score
100.0
distance
28.02878
seq distance
1331
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473626.
original residue
S
variation residue
Y
position
1672
score
100.0
distance
28.02878
seq distance
1331
chain
A
In BRGDA1; dbSNP:rs199473304.
original residue
G
variation residue
R
position
1740
score
100.0
distance
28.115528
seq distance
1399
chain
A
In BRGDA1; dbSNP:rs199473304.
original residue
G
variation residue
R
position
1740
score
100.0
distance
28.115528
seq distance
1399
chain
A
In BRGDA1; dbSNP:rs199473629.
original residue
G
variation residue
E
position
1743
score
100.0
distance
28.26888
seq distance
1402
chain
A
In BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells; dbSNP:rs199473305.
original residue
G
variation residue
R
position
1743
score
100.0
distance
28.26888
seq distance
1402
chain
A
In BRGDA1; dbSNP:rs199473629.
original residue
G
variation residue
E
position
1743
score
100.0
distance
28.26888
seq distance
1402
chain
A
In BRGDA1; decreases expression at the cell membrane; yields nearly undetectable currents in transfected cells; dbSNP:rs199473305.
original residue
G
variation residue
R
position
1743
score
100.0
distance
28.26888
seq distance
1402
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473242.
original residue
K
variation residue
E
position
1419
score
100.0
distance
28.347536
seq distance
1078
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473242.
original residue
K
variation residue
E
position
1419
score
100.0
distance
28.347536
seq distance
1078
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
M
position
1709
score
100.0
distance
28.684975
seq distance
1368
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
R
position
1709
score
100.0
distance
28.684975
seq distance
1368
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
M
position
1709
score
100.0
distance
28.684975
seq distance
1368
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473297.
original residue
T
variation residue
R
position
1709
score
100.0
distance
28.684975
seq distance
1368
chain
A
In VF1; dbSNP:rs137854604.
original residue
S
variation residue
L
position
1710
score
100.0
distance
28.710962
seq distance
1369
chain
A
In VF1; dbSNP:rs137854604.
original residue
S
variation residue
L
position
1710
score
100.0
distance
28.710962
seq distance
1369
chain
A
In BRGDA1; dbSNP:rs199473098.
original residue
M
variation residue
K
position
369
score
100.0
distance
28.931772
seq distance
28
chain
A
In BRGDA1; dbSNP:rs199473098.
original residue
M
variation residue
K
position
369
score
100.0
distance
28.931772
seq distance
28
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473204.
original residue
E
variation residue
K
position
1225
score
100.0
distance
29.583794
seq distance
884
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473204.
original residue
E
variation residue
K
position
1225
score
100.0
distance
29.583794
seq distance
884
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473099.
original residue
T
variation residue
M
position
370
score
100.0
distance
29.805065
seq distance
29
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473099.
original residue
T
variation residue
M
position
370
score
100.0
distance
29.805065
seq distance
29
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473300.
original residue
T
variation residue
N
position
1723
score
100.0
distance
30.55466
seq distance
1382
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473300.
original residue
T
variation residue
N
position
1723
score
100.0
distance
30.55466
seq distance
1382
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473303.
original residue
R
variation residue
W
position
1739
score
100.0
distance
30.663794
seq distance
1398
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473303.
original residue
R
variation residue
W
position
1739
score
100.0
distance
30.663794
seq distance
1398
chain
A
In BRGDA1; dbSNP:rs199473168.
original residue
R
variation residue
C
position
878
score
100.0
distance
30.784027
seq distance
537
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473587.
original residue
R
variation residue
H
position
878
score
100.0
distance
30.784027
seq distance
537
chain
A
In BRGDA1; dbSNP:rs199473168.
original residue
R
variation residue
C
position
878
score
100.0
distance
30.784027
seq distance
537
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473587.
original residue
R
variation residue
H
position
878
score
100.0
distance
30.784027
seq distance
537
chain
A
In BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation; dbSNP:rs199473180.
original residue
R
variation residue
C
position
1629
score
59.09090909090909
distance
30.793783
seq distance
1288
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
H
position
1629
score
59.09090909090909
distance
30.793783
seq distance
1288
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
L
position
1629
score
59.09090909090909
distance
30.793783
seq distance
1288
chain
A
In BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation; dbSNP:rs199473623.
original residue
R
variation residue
Q
position
1629
score
100.0
distance
30.793783
seq distance
1288
chain
A
In BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation; dbSNP:rs199473180.
original residue
R
variation residue
C
position
1629
score
59.09090909090909
distance
30.793783
seq distance
1288
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
H
position
1629
score
59.09090909090909
distance
30.793783
seq distance
1288
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473181.
original residue
R
variation residue
L
position
1629
score
59.09090909090909
distance
30.793783
seq distance
1288
chain
A
In BRGDA1; changed voltage-gated sodium channel activity; no difference in current density but changed inactivation kinetics and prolonged recovery from inactivation; dbSNP:rs199473623.
original residue
R
variation residue
Q
position
1629
score
100.0
distance
30.793783
seq distance
1288
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473619.
original residue
L
variation residue
F
position
1560
score
100.0
distance
30.80175
seq distance
1219
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473619.
original residue
L
variation residue
F
position
1560
score
100.0
distance
30.80175
seq distance
1219
chain
A
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; changed voltage dependence for activation and inactivation.
original residue
G
variation residue
D
position
1748
score
100.0
distance
30.971394
seq distance
1407
chain
A
In BRGDA1; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; domiFalset negative effect; changed voltage dependence for activation and inactivation.
original residue
G
variation residue
D
position
1748
score
100.0
distance
30.971394
seq distance
1407
chain
A
Phosphoserine
position
1744
score
50.0
distance
31.649551
seq distance
1403
chain
A
Phosphoserine
position
1744
score
50.0
distance
31.649551
seq distance
1403
chain
A
In BRGDA1; dbSNP:rs199473175.
original residue
S
variation residue
L
position
910
score
100.0
distance
32.522827
seq distance
569
chain
A
In BRGDA1; dbSNP:rs199473175.
original residue
S
variation residue
L
position
910
score
100.0
distance
32.522827
seq distance
569
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473588.
original residue
C
variation residue
R
position
915
score
100.0
distance
32.928314
seq distance
574
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473588.
original residue
C
variation residue
R
position
915
score
100.0
distance
32.928314
seq distance
574
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473237.
original residue
C
variation residue
Y
position
1363
score
100.0
distance
32.962807
seq distance
1022
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473237.
original residue
C
variation residue
Y
position
1363
score
100.0
distance
32.962807
seq distance
1022
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473244.
original residue
A
variation residue
S
position
1427
score
100.0
distance
33.537136
seq distance
1086
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473244.
original residue
A
variation residue
S
position
1427
score
100.0
distance
33.537136
seq distance
1086
chain
A
In BRGDA1; dbSNP:rs199473208.
original residue
K
variation residue
N
position
1236
score
100.0
distance
33.694912
seq distance
895
chain
A
In BRGDA1; dbSNP:rs199473208.
original residue
K
variation residue
N
position
1236
score
100.0
distance
33.694912
seq distance
895
chain
A
In LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation; dbSNP:rs794728898.
original residue
H
variation residue
R
position
880
score
50.0
distance
33.704197
seq distance
539
chain
A
In LQT3; decreased interaction with FGF12, FGF13 and FGF14; increased voltage-gated sodium channel activity; altered inactivation; dbSNP:rs794728898.
original residue
H
variation residue
R
position
880
score
50.0
distance
33.704197
seq distance
539
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473280.
original residue
V
variation residue
M
position
1604
score
100.0
distance
33.742733
seq distance
1263
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473280.
original residue
V
variation residue
M
position
1604
score
100.0
distance
33.742733
seq distance
1263
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473171.
original residue
R
variation residue
C
position
893
score
100.0
distance
33.952473
seq distance
552
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473172.
original residue
R
variation residue
H
position
893
score
100.0
distance
33.952473
seq distance
552
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473171.
original residue
R
variation residue
C
position
893
score
100.0
distance
33.952473
seq distance
552
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473172.
original residue
R
variation residue
H
position
893
score
100.0
distance
33.952473
seq distance
552
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473293.
original residue
V
variation residue
I
position
1667
score
100.0
distance
34.272068
seq distance
1326
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473293.
original residue
V
variation residue
I
position
1667
score
100.0
distance
34.272068
seq distance
1326
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473167.
original residue
E
variation residue
Q
position
867
score
100.0
distance
34.724438
seq distance
526
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473167.
original residue
E
variation residue
Q
position
867
score
100.0
distance
34.724438
seq distance
526
chain
A
In BRGDA1; dbSNP:rs199473173.
original residue
C
variation residue
S
position
896
score
100.0
distance
34.727615
seq distance
555
chain
A
In BRGDA1; dbSNP:rs199473173.
original residue
C
variation residue
S
position
896
score
100.0
distance
34.727615
seq distance
555
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473292.
original residue
G
variation residue
R
position
1661
score
100.0
distance
35.660614
seq distance
1320
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473292.
original residue
G
variation residue
R
position
1661
score
100.0
distance
35.660614
seq distance
1320
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473176.
original residue
L
variation residue
R
position
917
score
100.0
distance
35.691498
seq distance
576
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473176.
original residue
L
variation residue
R
position
917
score
100.0
distance
35.691498
seq distance
576
chain
A
In LQT3; dbSNP:rs199473107.
original residue
L
variation residue
Q
position
404
score
100.0
distance
36.21491
seq distance
63
chain
A
In LQT3; dbSNP:rs199473107.
original residue
L
variation residue
Q
position
404
score
100.0
distance
36.21491
seq distance
63
chain
A
In LQT3; dbSNP:rs199473603.
original residue
T
variation residue
M
position
1304
score
100.0
distance
36.27444
seq distance
963
chain
A
In LQT3; dbSNP:rs199473603.
original residue
T
variation residue
M
position
1304
score
100.0
distance
36.27444
seq distance
963
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473236.
original residue
F
variation residue
C
position
1360
score
100.0
distance
36.292953
seq distance
1019
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473236.
original residue
F
variation residue
C
position
1360
score
100.0
distance
36.292953
seq distance
1019
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473597.
original residue
S
variation residue
N
position
1219
score
100.0
distance
36.2934
seq distance
878
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473597.
original residue
S
variation residue
N
position
1219
score
100.0
distance
36.2934
seq distance
878
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473210.
original residue
L
variation residue
P
position
1239
score
100.0
distance
36.30936
seq distance
898
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473210.
original residue
L
variation residue
P
position
1239
score
100.0
distance
36.30936
seq distance
898
chain
A
In LQT3; dbSNP:rs199473631.
original residue
V
variation residue
M
position
1763
score
100.0
distance
36.73398
seq distance
1422
chain
A
In LQT3; dbSNP:rs199473631.
original residue
V
variation residue
M
position
1763
score
100.0
distance
36.73398
seq distance
1422
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473248.
original residue
P
variation residue
L
position
1438
score
100.0
distance
36.770832
seq distance
1097
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473248.
original residue
P
variation residue
L
position
1438
score
100.0
distance
36.770832
seq distance
1097
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473612.
original residue
A
variation residue
V
position
1428
score
100.0
distance
37.043285
seq distance
1087
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473612.
original residue
A
variation residue
V
position
1428
score
100.0
distance
37.043285
seq distance
1087
chain
A
In BRGDA1; dbSNP:rs199473170.
original residue
F
variation residue
I
position
892
score
100.0
distance
37.689617
seq distance
551
chain
A
In BRGDA1; dbSNP:rs199473170.
original residue
F
variation residue
I
position
892
score
100.0
distance
37.689617
seq distance
551
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473241.
original residue
L
variation residue
F
position
1412
score
100.0
distance
37.775272
seq distance
1071
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473241.
original residue
L
variation residue
F
position
1412
score
100.0
distance
37.775272
seq distance
1071
chain
A
In dbSNP:rs199473177.
original residue
V
variation residue
I
position
924
score
100.0
distance
37.828278
seq distance
583
chain
A
In dbSNP:rs199473177.
original residue
V
variation residue
I
position
924
score
100.0
distance
37.828278
seq distance
583
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473169.
original residue
H
variation residue
P
position
886
score
100.0
distance
37.84574
seq distance
545
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473169.
original residue
H
variation residue
P
position
886
score
100.0
distance
37.84574
seq distance
545
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473249.
original residue
E
variation residue
Q
position
1441
score
100.0
distance
37.86191
seq distance
1100
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473249.
original residue
E
variation residue
Q
position
1441
score
100.0
distance
37.86191
seq distance
1100
chain
A
May confer susceptibility to acquired arrhythmia; dbSNP:rs7626962.
original residue
S
variation residue
Y
position
1218
score
50.0
distance
38.54386
seq distance
877
chain
A
May confer susceptibility to acquired arrhythmia; dbSNP:rs7626962.
original residue
S
variation residue
Y
position
1218
score
50.0
distance
38.54386
seq distance
877
chain
A
In BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane; dbSNP:rs199473625.
original residue
I
variation residue
V
position
1660
score
100.0
distance
38.953648
seq distance
1319
chain
A
In BRGDA1 and LQT3; complete loss of sodium currents due to defective channel trafficking to the plasma membrane; dbSNP:rs199473625.
original residue
I
variation residue
V
position
1660
score
100.0
distance
38.953648
seq distance
1319
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473589.
original residue
N
variation residue
S
position
927
score
100.0
distance
38.997433
seq distance
586
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473589.
original residue
N
variation residue
S
position
927
score
100.0
distance
38.997433
seq distance
586
chain
A
In LQT3; dbSNP:rs199473108.
original residue
N
variation residue
K
position
406
score
100.0
distance
39.107975
seq distance
65
chain
A
In BRGDA1; dbSNP:rs199473568.
original residue
N
variation residue
S
position
406
score
100.0
distance
39.107975
seq distance
65
chain
A
In LQT3; dbSNP:rs199473108.
original residue
N
variation residue
K
position
406
score
100.0
distance
39.107975
seq distance
65
chain
A
In BRGDA1; dbSNP:rs199473568.
original residue
N
variation residue
S
position
406
score
100.0
distance
39.107975
seq distance
65
chain
A
In dbSNP:rs199473211.
original residue
E
variation residue
Q
position
1240
score
100.0
distance
39.130836
seq distance
899
chain
A
In dbSNP:rs199473211.
original residue
E
variation residue
Q
position
1240
score
100.0
distance
39.130836
seq distance
899
chain
A
Associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031.
original residue
L
variation residue
F
position
1308
score
100.0
distance
39.13513
seq distance
967
chain
A
Associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031.
original residue
L
variation residue
F
position
1308
score
100.0
distance
39.13513
seq distance
967
chain
A
In LQT3; affects protein trafficking; dbSNP:rs199473310.
original residue
M
variation residue
L
position
1766
score
100.0
distance
39.514618
seq distance
1425
chain
A
In LQT3; affects protein trafficking; dbSNP:rs199473310.
original residue
M
variation residue
L
position
1766
score
100.0
distance
39.514618
seq distance
1425
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473307.
original residue
L
variation residue
F
position
1761
score
100.0
distance
39.542515
seq distance
1420
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473308.
original residue
L
variation residue
H
position
1761
score
100.0
distance
39.542515
seq distance
1420
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473307.
original residue
L
variation residue
F
position
1761
score
100.0
distance
39.542515
seq distance
1420
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473308.
original residue
L
variation residue
H
position
1761
score
100.0
distance
39.542515
seq distance
1420
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473610.
original residue
Y
variation residue
C
position
1409
score
100.0
distance
39.759857
seq distance
1068
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473610.
original residue
Y
variation residue
C
position
1409
score
100.0
distance
39.759857
seq distance
1068
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473235.
original residue
K
variation residue
N
position
1359
score
100.0
distance
39.965675
seq distance
1018
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473235.
original residue
K
variation residue
N
position
1359
score
100.0
distance
39.965675
seq distance
1018
chain
A
In SSS1 and BRGDA1; dbSNP:rs137854612.
original residue
G
variation residue
R
position
1408
score
100.0
distance
39.979824
seq distance
1067
chain
A
In SSS1 and BRGDA1; dbSNP:rs137854612.
original residue
G
variation residue
R
position
1408
score
100.0
distance
39.979824
seq distance
1067
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473309.
original residue
V
variation residue
F
position
1764
score
100.0
distance
40.136803
seq distance
1423
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473309.
original residue
V
variation residue
F
position
1764
score
100.0
distance
40.136803
seq distance
1423
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473632.
original residue
Y
variation residue
C
position
1767
score
100.0
distance
40.805714
seq distance
1426
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473632.
original residue
Y
variation residue
C
position
1767
score
100.0
distance
40.805714
seq distance
1426
chain
A
In BRGDA1; asymptomatic patient; associated with R-1527; dbSNP:rs199473273.
original residue
A
variation residue
P
position
1569
score
100.0
distance
40.807095
seq distance
1228
chain
A
In BRGDA1; asymptomatic patient; associated with R-1527; dbSNP:rs199473273.
original residue
A
variation residue
P
position
1569
score
100.0
distance
40.807095
seq distance
1228
chain
A
In LQT3; dbSNP:rs199473253.
original residue
S
variation residue
Y
position
1458
score
100.0
distance
40.88334
seq distance
1117
chain
A
In LQT3; dbSNP:rs199473253.
original residue
S
variation residue
Y
position
1458
score
100.0
distance
40.88334
seq distance
1117
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473599.
original residue
D
variation residue
N
position
1243
score
100.0
distance
40.99574
seq distance
902
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473599.
original residue
D
variation residue
N
position
1243
score
100.0
distance
40.99574
seq distance
902
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473252.
original residue
V
variation residue
D
position
1451
score
100.0
distance
41.091354
seq distance
1110
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473252.
original residue
V
variation residue
D
position
1451
score
100.0
distance
41.091354
seq distance
1110
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473290.
original residue
L
variation residue
F
position
1650
score
100.0
distance
41.32774
seq distance
1309
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473290.
original residue
L
variation residue
F
position
1650
score
100.0
distance
41.32774
seq distance
1309
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473219.
original residue
L
variation residue
P
position
1311
score
100.0
distance
41.48469
seq distance
970
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473219.
original residue
L
variation residue
P
position
1311
score
100.0
distance
41.48469
seq distance
970
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473234.
original residue
G
variation residue
W
position
1358
score
100.0
distance
41.73581
seq distance
1017
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473234.
original residue
G
variation residue
W
position
1358
score
100.0
distance
41.73581
seq distance
1017
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473045.
original residue
R
variation residue
H
position
1432
score
54.54545454545454
distance
41.78073
seq distance
1091
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473245.
original residue
R
variation residue
G
position
1432
score
100.0
distance
41.78073
seq distance
1091
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473246.
original residue
R
variation residue
S
position
1432
score
100.0
distance
41.78073
seq distance
1091
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473045.
original residue
R
variation residue
H
position
1432
score
54.54545454545454
distance
41.78073
seq distance
1091
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473245.
original residue
R
variation residue
G
position
1432
score
100.0
distance
41.78073
seq distance
1091
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473246.
original residue
R
variation residue
S
position
1432
score
100.0
distance
41.78073
seq distance
1091
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473609.
original residue
G
variation residue
E
position
1406
score
100.0
distance
41.81311
seq distance
1065
chain
A
In BRGDA1; dbSNP:rs199473240.
original residue
G
variation residue
R
position
1406
score
100.0
distance
41.81311
seq distance
1065
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473609.
original residue
G
variation residue
E
position
1406
score
100.0
distance
41.81311
seq distance
1065
chain
A
In BRGDA1; dbSNP:rs199473240.
original residue
G
variation residue
R
position
1406
score
100.0
distance
41.81311
seq distance
1065
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473277.
original residue
F
variation residue
S
position
1594
score
100.0
distance
41.83145
seq distance
1253
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473277.
original residue
F
variation residue
S
position
1594
score
100.0
distance
41.83145
seq distance
1253
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473274.
original residue
F
variation residue
C
position
1571
score
100.0
distance
41.84741
seq distance
1230
chain
A
In BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest; dbSNP:rs1369632373.
original residue
F
variation residue
L
position
1571
score
100.0
distance
41.84741
seq distance
1230
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473274.
original residue
F
variation residue
C
position
1571
score
100.0
distance
41.84741
seq distance
1230
chain
A
In BRGDA1; affects channel activity; the mutant displays a hyperpolarizing shift in the voltage dependence of inactivation causing slower inactivation compared to the wild type, slower recovery and a reduced availability of channels at rest; dbSNP:rs1369632373.
original residue
F
variation residue
L
position
1571
score
100.0
distance
41.84741
seq distance
1230
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473178.
original residue
L
variation residue
P
position
928
score
100.0
distance
41.855816
seq distance
587
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473178.
original residue
L
variation residue
P
position
928
score
100.0
distance
41.855816
seq distance
587
chain
A
In PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3; dbSNP:rs137854607.
original residue
D
variation residue
N
position
1595
score
100.0
distance
42.123486
seq distance
1254
chain
A
In PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3; dbSNP:rs137854607.
original residue
D
variation residue
N
position
1595
score
100.0
distance
42.123486
seq distance
1254
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473109.
original residue
L
variation residue
V
position
409
score
100.0
distance
42.43542
seq distance
68
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473109.
original residue
L
variation residue
V
position
409
score
100.0
distance
42.43542
seq distance
68
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473278.
original residue
F
variation residue
I
position
1596
score
100.0
distance
42.744934
seq distance
1255
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473278.
original residue
F
variation residue
I
position
1596
score
100.0
distance
42.744934
seq distance
1255
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473250.
original residue
I
variation residue
L
position
1448
score
100.0
distance
42.850037
seq distance
1107
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473251.
original residue
I
variation residue
T
position
1448
score
100.0
distance
42.850037
seq distance
1107
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473250.
original residue
I
variation residue
L
position
1448
score
100.0
distance
42.850037
seq distance
1107
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473251.
original residue
I
variation residue
T
position
1448
score
100.0
distance
42.850037
seq distance
1107
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473613.
original residue
Y
variation residue
C
position
1449
score
100.0
distance
42.97974
seq distance
1108
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473613.
original residue
Y
variation residue
C
position
1449
score
100.0
distance
42.97974
seq distance
1108
chain
A
In SSS1; dbSNP:rs28937319.
original residue
P
variation residue
L
position
1298
score
100.0
distance
43.181618
seq distance
957
chain
A
In SSS1; dbSNP:rs28937319.
original residue
P
variation residue
L
position
1298
score
100.0
distance
43.181618
seq distance
957
chain
A
In LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation; dbSNP:rs199473218.
original residue
E
variation residue
K
position
1295
score
100.0
distance
43.449627
seq distance
954
chain
A
In LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation; dbSNP:rs199473218.
original residue
E
variation residue
K
position
1295
score
100.0
distance
43.449627
seq distance
954
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473247.
original residue
G
variation residue
V
position
1433
score
100.0
distance
43.802116
seq distance
1092
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473247.
original residue
G
variation residue
V
position
1433
score
100.0
distance
43.802116
seq distance
1092
chain
A
In BRGDA1; dbSNP:rs199473608.
original residue
S
variation residue
I
position
1382
score
100.0
distance
43.90863
seq distance
1041
chain
A
In BRGDA1; dbSNP:rs199473608.
original residue
S
variation residue
I
position
1382
score
100.0
distance
43.90863
seq distance
1041
chain
A
In BRGDA1; dbSNP:rs199473239.
original residue
V
variation residue
L
position
1405
score
100.0
distance
44.089
seq distance
1064
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473239.
original residue
V
variation residue
M
position
1405
score
100.0
distance
44.089
seq distance
1064
chain
A
In BRGDA1; dbSNP:rs199473239.
original residue
V
variation residue
L
position
1405
score
100.0
distance
44.089
seq distance
1064
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473239.
original residue
V
variation residue
M
position
1405
score
100.0
distance
44.089
seq distance
1064
chain
A
In LQT3; unknown pathological significance; dbSNP:rs794728920.
original residue
variation residue
position
1212
score
100.0
distance
44.248367
seq distance
871
chain
A
In LQT3; unknown pathological significance; dbSNP:rs794728920.
original residue
variation residue
position
1212
score
100.0
distance
44.248367
seq distance
871
chain
A
In LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve; dbSNP:rs199473311.
original residue
I
variation residue
V
position
1768
score
100.0
distance
44.338215
seq distance
1427
chain
A
In LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve; dbSNP:rs199473311.
original residue
I
variation residue
V
position
1768
score
100.0
distance
44.338215
seq distance
1427
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473233.
original residue
V
variation residue
M
position
1353
score
100.0
distance
44.576614
seq distance
1012
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473233.
original residue
V
variation residue
M
position
1353
score
100.0
distance
44.576614
seq distance
1012
chain
A
In BRGDA1; dbSNP:rs199473289.
original residue
A
variation residue
V
position
1649
score
100.0
distance
44.62773
seq distance
1308
chain
A
In LQT3; dbSNP:rs199473330.
original residue
A
variation residue
S
position
1649
score
54.54545454545454
distance
44.62773
seq distance
1308
chain
A
In BRGDA1; dbSNP:rs199473289.
original residue
A
variation residue
V
position
1649
score
100.0
distance
44.62773
seq distance
1308
chain
A
In LQT3; dbSNP:rs199473330.
original residue
A
variation residue
S
position
1649
score
54.54545454545454
distance
44.62773
seq distance
1308
chain
A
In BRGDA1; dbSNP:rs199473220.
original residue
G
variation residue
V
position
1319
score
100.0
distance
44.68666
seq distance
978
chain
A
In BRGDA1; dbSNP:rs199473220.
original residue
G
variation residue
V
position
1319
score
100.0
distance
44.68666
seq distance
978
chain
A
In LQT3; dbSNP:rs199473287.
original residue
R
variation residue
C
position
1644
score
100.0
distance
44.901867
seq distance
1303
chain
A
In LQT3; dbSNP:rs28937316.
original residue
R
variation residue
H
position
1644
score
100.0
distance
44.901867
seq distance
1303
chain
A
In LQT3; dbSNP:rs199473287.
original residue
R
variation residue
C
position
1644
score
100.0
distance
44.901867
seq distance
1303
chain
A
In LQT3; dbSNP:rs28937316.
original residue
R
variation residue
H
position
1644
score
100.0
distance
44.901867
seq distance
1303
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473221.
original residue
V
variation residue
G
position
1323
score
100.0
distance
45.00194
seq distance
982
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473221.
original residue
V
variation residue
G
position
1323
score
100.0
distance
45.00194
seq distance
982
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473276.
original residue
I
variation residue
M
position
1593
score
100.0
distance
45.088547
seq distance
1252
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473276.
original residue
I
variation residue
M
position
1593
score
100.0
distance
45.088547
seq distance
1252
chain
A
In LQT3; dbSNP:rs199473291.
original residue
M
variation residue
R
position
1652
score
100.0
distance
45.285603
seq distance
1311
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473291.
original residue
M
variation residue
T
position
1652
score
100.0
distance
45.285603
seq distance
1311
chain
A
In LQT3; dbSNP:rs199473291.
original residue
M
variation residue
R
position
1652
score
100.0
distance
45.285603
seq distance
1311
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473291.
original residue
M
variation residue
T
position
1652
score
100.0
distance
45.285603
seq distance
1311
chain
A
In BRGDA1; dbSNP:rs199473586.
original residue
F
variation residue
L
position
851
score
100.0
distance
45.758224
seq distance
510
chain
A
In BRGDA1; dbSNP:rs199473586.
original residue
F
variation residue
L
position
851
score
100.0
distance
45.758224
seq distance
510
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473614.
original residue
N
variation residue
Y
position
1463
score
100.0
distance
45.83517
seq distance
1122
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473614.
original residue
N
variation residue
Y
position
1463
score
100.0
distance
45.83517
seq distance
1122
chain
A
In LQT3; dbSNP:rs72549410.
original residue
V
variation residue
M
position
411
score
100.0
distance
46.17016
seq distance
70
chain
A
In LQT3; dbSNP:rs72549410.
original residue
V
variation residue
M
position
411
score
100.0
distance
46.17016
seq distance
70
chain
A
In LQT3; dbSNP:rs199473615.
original residue
F
variation residue
L
position
1486
score
100.0
distance
46.327713
seq distance
1145
chain
A
In LQT3; dbSNP:rs199473615.
original residue
F
variation residue
L
position
1486
score
100.0
distance
46.327713
seq distance
1145
chain
A
In LQT3; dbSNP:rs199473288.
original residue
T
variation residue
M
position
1645
score
100.0
distance
46.734665
seq distance
1304
chain
A
In LQT3; dbSNP:rs199473288.
original residue
T
variation residue
M
position
1645
score
100.0
distance
46.734665
seq distance
1304
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473227.
original residue
L
variation residue
V
position
1338
score
100.0
distance
47.041695
seq distance
997
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473227.
original residue
L
variation residue
V
position
1338
score
100.0
distance
47.041695
seq distance
997
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473230.
original residue
L
variation residue
I
position
1346
score
100.0
distance
47.068386
seq distance
1005
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473231.
original residue
L
variation residue
P
position
1346
score
100.0
distance
47.068386
seq distance
1005
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473230.
original residue
L
variation residue
I
position
1346
score
100.0
distance
47.068386
seq distance
1005
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473231.
original residue
L
variation residue
P
position
1346
score
100.0
distance
47.068386
seq distance
1005
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473620.
original residue
E
variation residue
K
position
1574
score
100.0
distance
47.080914
seq distance
1233
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473620.
original residue
E
variation residue
K
position
1574
score
100.0
distance
47.080914
seq distance
1233
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473624.
original residue
G
variation residue
E
position
1642
score
100.0
distance
47.097046
seq distance
1301
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473624.
original residue
G
variation residue
E
position
1642
score
100.0
distance
47.097046
seq distance
1301
chain
A
In SSS1 and BRGDA1; dbSNP:rs45620037.
original residue
T
variation residue
I
position
220
score
100.0
distance
47.157593
seq distance
60
chain
A
In SSS1 and BRGDA1; dbSNP:rs45620037.
original residue
T
variation residue
I
position
220
score
100.0
distance
47.157593
seq distance
60
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473232.
original residue
M
variation residue
R
position
1351
score
100.0
distance
47.171646
seq distance
1010
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473232.
original residue
M
variation residue
R
position
1351
score
100.0
distance
47.171646
seq distance
1010
chain
A
In dbSNP:rs41313697.
original residue
L
variation residue
V
position
1286
score
54.54545454545454
distance
47.313175
seq distance
945
chain
A
In dbSNP:rs41313697.
original residue
L
variation residue
V
position
1286
score
54.54545454545454
distance
47.313175
seq distance
945
chain
A
Rare variant found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41276525.
original residue
S
variation residue
L
position
216
score
100.0
distance
47.340122
seq distance
64
chain
A
Rare variant found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41276525.
original residue
S
variation residue
L
position
216
score
100.0
distance
47.340122
seq distance
64
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473078.
original residue
V
variation residue
L
position
247
score
100.0
distance
47.392483
seq distance
33
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473078.
original residue
V
variation residue
L
position
247
score
100.0
distance
47.392483
seq distance
33
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473258.
original residue
M
variation residue
L
position
1487
score
100.0
distance
47.756676
seq distance
1146
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473258.
original residue
M
variation residue
L
position
1487
score
100.0
distance
47.756676
seq distance
1146
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473179.
original residue
L
variation residue
P
position
935
score
100.0
distance
47.89141
seq distance
594
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473179.
original residue
L
variation residue
P
position
935
score
100.0
distance
47.89141
seq distance
594
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473226.
original residue
I
variation residue
V
position
1334
score
100.0
distance
48.23649
seq distance
993
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473226.
original residue
I
variation residue
V
position
1334
score
100.0
distance
48.23649
seq distance
993
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473228.
original residue
F
variation residue
L
position
1344
score
100.0
distance
48.42834
seq distance
1003
chain
A
In BRGDA1; dbSNP:rs199473229.
original residue
F
variation residue
S
position
1344
score
100.0
distance
48.42834
seq distance
1003
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473228.
original residue
F
variation residue
L
position
1344
score
100.0
distance
48.42834
seq distance
1003
chain
A
In BRGDA1; dbSNP:rs199473229.
original residue
F
variation residue
S
position
1344
score
100.0
distance
48.42834
seq distance
1003
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473569.
original residue
A
variation residue
E
position
413
score
100.0
distance
48.456623
seq distance
72
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473110.
original residue
A
variation residue
T
position
413
score
100.0
distance
48.456623
seq distance
72
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473569.
original residue
A
variation residue
E
position
413
score
100.0
distance
48.456623
seq distance
72
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473110.
original residue
A
variation residue
T
position
413
score
100.0
distance
48.456623
seq distance
72
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs41311127.
original residue
F
variation residue
S
position
1293
score
100.0
distance
48.510105
seq distance
952
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs41311127.
original residue
F
variation residue
S
position
1293
score
100.0
distance
48.510105
seq distance
952
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473222.
original residue
A
variation residue
S
position
1326
score
100.0
distance
48.53435
seq distance
985
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473222.
original residue
A
variation residue
S
position
1326
score
100.0
distance
48.53435
seq distance
985
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473217.
original residue
A
variation residue
G
position
1288
score
100.0
distance
48.634975
seq distance
947
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473217.
original residue
A
variation residue
G
position
1288
score
100.0
distance
48.634975
seq distance
947
chain
A
In dbSNP:rs199473191.
original residue
V
variation residue
L
position
1284
score
50.0
distance
48.66659
seq distance
943
chain
A
In dbSNP:rs199473191.
original residue
V
variation residue
L
position
1284
score
50.0
distance
48.66659
seq distance
943
chain
A
In LQT3; drug-induced LQT syndrome; dbSNP:rs45589741.
original residue
F
variation residue
L
position
1250
score
100.0
distance
48.739437
seq distance
909
chain
A
In LQT3; drug-induced LQT syndrome; dbSNP:rs45589741.
original residue
F
variation residue
L
position
1250
score
100.0
distance
48.739437
seq distance
909
chain
A
In CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials; dbSNP:rs137854618.
original residue
D
variation residue
N
position
1275
score
100.0
distance
48.899517
seq distance
934
chain
A
In CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with variants in the regulatory region of GJA5; decreases expression at the cell membrane; alters channel kinetics; shifts activation and inactivation to more positive membrane potentials; dbSNP:rs137854618.
original residue
D
variation residue
N
position
1275
score
100.0
distance
48.899517
seq distance
934
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473213.
original residue
V
variation residue
D
position
1249
score
100.0
distance
48.90304
seq distance
908
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473213.
original residue
V
variation residue
D
position
1249
score
100.0
distance
48.90304
seq distance
908
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473166.
original residue
I
variation residue
F
position
848
score
100.0
distance
49.043457
seq distance
507
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473166.
original residue
I
variation residue
F
position
848
score
100.0
distance
49.043457
seq distance
507
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473618.
original residue
V
variation residue
I
position
1532
score
100.0
distance
49.086376
seq distance
1191
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473618.
original residue
V
variation residue
I
position
1532
score
100.0
distance
49.086376
seq distance
1191
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473216.
original residue
L
variation residue
M
position
1283
score
100.0
distance
49.1271
seq distance
942
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473216.
original residue
L
variation residue
M
position
1283
score
100.0
distance
49.1271
seq distance
942
chain
A
In LQT3; dbSNP:rs28937317.
original residue
N
variation residue
S
position
1325
score
100.0
distance
49.284355
seq distance
984
chain
A
In LQT3; dbSNP:rs28937317.
original residue
N
variation residue
S
position
1325
score
100.0
distance
49.284355
seq distance
984
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473259.
original residue
T
variation residue
R
position
1488
score
100.0
distance
49.295013
seq distance
1147
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473259.
original residue
T
variation residue
R
position
1488
score
100.0
distance
49.295013
seq distance
1147
chain
A
In BRGDA1; dbSNP:rs199473261.
original residue
Y
variation residue
N
position
1494
score
100.0
distance
49.585003
seq distance
1153
chain
A
In BRGDA1; dbSNP:rs199473261.
original residue
Y
variation residue
N
position
1494
score
100.0
distance
49.585003
seq distance
1153
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473262.
original residue
Y
variation residue
S
position
1495
score
100.0
distance
49.659496
seq distance
1154
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473262.
original residue
Y
variation residue
S
position
1495
score
100.0
distance
49.659496
seq distance
1154
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473052.
original residue
F
variation residue
S
position
221
score
50.0
distance
49.670944
seq distance
59
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473052.
original residue
F
variation residue
S
position
221
score
50.0
distance
49.670944
seq distance
59
chain
A
Found in a patient with long QT syndrome; unknown pathological significance; dbSNP:rs199473263.
original residue
M
variation residue
T
position
1498
score
100.0
distance
49.683674
seq distance
1157
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473264.
original residue
M
variation residue
V
position
1498
score
100.0
distance
49.683674
seq distance
1157
chain
A
Found in a patient with long QT syndrome; unknown pathological significance; dbSNP:rs199473263.
original residue
M
variation residue
T
position
1498
score
100.0
distance
49.683674
seq distance
1157
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473264.
original residue
M
variation residue
V
position
1498
score
100.0
distance
49.683674
seq distance
1157
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473560.
original residue
V
variation residue
L
position
223
score
100.0
distance
49.718338
seq distance
57
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473560.
original residue
V
variation residue
L
position
223
score
100.0
distance
49.718338
seq distance
57
chain
A
In LQT3; dbSNP:rs199473321.
original residue
D
variation residue
G
position
1280
score
50.0
distance
49.74948
seq distance
939
chain
A
In LQT3; dbSNP:rs199473321.
original residue
D
variation residue
G
position
1280
score
50.0
distance
49.74948
seq distance
939
chain
A
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
P
position
1330
score
100.0
distance
49.97725
seq distance
989
chain
A
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
T
position
1330
score
100.0
distance
49.97725
seq distance
989
chain
A
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
P
position
1330
score
100.0
distance
49.97725
seq distance
989
chain
A
In LQT3; dbSNP:rs199473224.
original residue
A
variation residue
T
position
1330
score
100.0
distance
49.97725
seq distance
989
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473254.
original residue
V
variation residue
F
position
1468
score
100.0
distance
50.18831
seq distance
1127
chain
A
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41315493.
original residue
V
variation residue
L
position
1468
score
54.54545454545454
distance
50.18831
seq distance
1127
chain
A
In ATFB10; dbSNP:rs41315493.
original residue
V
variation residue
M
position
1468
score
54.54545454545454
distance
50.18831
seq distance
1127
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473254.
original residue
V
variation residue
F
position
1468
score
100.0
distance
50.18831
seq distance
1127
chain
A
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; unknown pathological significance; dbSNP:rs41315493.
original residue
V
variation residue
L
position
1468
score
54.54545454545454
distance
50.18831
seq distance
1127
chain
A
In ATFB10; dbSNP:rs41315493.
original residue
V
variation residue
M
position
1468
score
54.54545454545454
distance
50.18831
seq distance
1127
chain
A
In BRGDA1; dbSNP:rs137854611.
original residue
A
variation residue
E
position
735
score
100.0
distance
50.310745
seq distance
394
chain
A
In BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs137854611.
original residue
A
variation residue
V
position
735
score
100.0
distance
50.310745
seq distance
394
chain
A
In BRGDA1; dbSNP:rs137854611.
original residue
A
variation residue
E
position
735
score
100.0
distance
50.310745
seq distance
394
chain
A
In BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs137854611.
original residue
A
variation residue
V
position
735
score
100.0
distance
50.310745
seq distance
394
chain
A
In LQT3; dbSNP:rs199473256.
original residue
F
variation residue
C
position
1473
score
100.0
distance
50.539738
seq distance
1132
chain
A
In LQT3; dbSNP:rs199473256.
original residue
F
variation residue
C
position
1473
score
100.0
distance
50.539738
seq distance
1132
chain
A
In LQT3; dbSNP:rs199473314.
original residue
V
variation residue
M
position
1777
score
90.9090909090909
distance
50.594795
seq distance
1436
chain
A
In LQT3; dbSNP:rs199473314.
original residue
V
variation residue
M
position
1777
score
90.9090909090909
distance
50.594795
seq distance
1436
chain
A
Phosphoserine
position
805
score
59.09090909090909
distance
50.72908
seq distance
464
chain
A
Phosphoserine
position
805
score
59.09090909090909
distance
50.72908
seq distance
464
chain
A
In BRGDA1; dbSNP:rs199473267.
original residue
G
variation residue
S
position
1502
score
100.0
distance
51.24427
seq distance
1161
chain
A
In BRGDA1; dbSNP:rs199473267.
original residue
G
variation residue
S
position
1502
score
100.0
distance
51.24427
seq distance
1161
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473266.
original residue
L
variation residue
V
position
1501
score
100.0
distance
51.371445
seq distance
1160
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473266.
original residue
L
variation residue
V
position
1501
score
100.0
distance
51.371445
seq distance
1160
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473601.
original residue
W
variation residue
C
position
1271
score
100.0
distance
51.504974
seq distance
930
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473601.
original residue
W
variation residue
C
position
1271
score
100.0
distance
51.504974
seq distance
930
chain
A
In dbSNP:rs199473600.
original residue
V
variation residue
M
position
1251
score
100.0
distance
51.678154
seq distance
910
chain
A
In dbSNP:rs199473600.
original residue
V
variation residue
M
position
1251
score
100.0
distance
51.678154
seq distance
910
chain
A
In LQT3 and SIDS; dbSNP:rs199473604.
original residue
S
variation residue
Y
position
1333
score
100.0
distance
51.847656
seq distance
992
chain
A
In LQT3 and SIDS; dbSNP:rs199473604.
original residue
S
variation residue
Y
position
1333
score
100.0
distance
51.847656
seq distance
992
chain
A
In BRGDA1 and LQT3; dbSNP:rs45546039.
original residue
R
variation residue
Q
position
222
score
100.0
distance
51.851795
seq distance
58
chain
A
In BRGDA1 and LQT3; dbSNP:rs45546039.
original residue
R
variation residue
Q
position
222
score
100.0
distance
51.851795
seq distance
58
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473255.
original residue
N
variation residue
S
position
1472
score
100.0
distance
52.192924
seq distance
1131
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473255.
original residue
N
variation residue
S
position
1472
score
100.0
distance
52.192924
seq distance
1131
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473616.
original residue
E
variation residue
D
position
1489
score
100.0
distance
52.426365
seq distance
1148
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473616.
original residue
E
variation residue
D
position
1489
score
100.0
distance
52.426365
seq distance
1148
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473225.
original residue
P
variation residue
L
position
1332
score
100.0
distance
52.55809
seq distance
991
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473225.
original residue
P
variation residue
L
position
1332
score
100.0
distance
52.55809
seq distance
991
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473260.
original residue
K
variation residue
R
position
1493
score
100.0
distance
52.74432
seq distance
1152
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473260.
original residue
K
variation residue
R
position
1493
score
100.0
distance
52.74432
seq distance
1152
chain
A
In LQT3; dbSNP:rs199473077.
original residue
Q
variation residue
K
position
245
score
100.0
distance
52.88504
seq distance
35
chain
A
In LQT3; dbSNP:rs199473077.
original residue
Q
variation residue
K
position
245
score
100.0
distance
52.88504
seq distance
35
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473214.
original residue
E
variation residue
G
position
1253
score
100.0
distance
52.997723
seq distance
912
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473214.
original residue
E
variation residue
G
position
1253
score
100.0
distance
52.997723
seq distance
912
chain
A
In BRGDA1; dbSNP:rs199473561.
original residue
A
variation residue
V
position
226
score
100.0
distance
53.14161
seq distance
54
chain
A
In BRGDA1; dbSNP:rs199473561.
original residue
A
variation residue
V
position
226
score
100.0
distance
53.14161
seq distance
54
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473076.
original residue
V
variation residue
M
position
240
score
100.0
distance
53.243694
seq distance
40
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473076.
original residue
V
variation residue
M
position
240
score
100.0
distance
53.243694
seq distance
40
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473061.
original residue
V
variation residue
M
position
146
score
100.0
distance
53.27858
seq distance
134
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473061.
original residue
V
variation residue
M
position
146
score
100.0
distance
53.27858
seq distance
134
chain
A
In dbSNP:rs199473265.
original residue
K
variation residue
N
position
1500
score
100.0
distance
54.059494
seq distance
1159
chain
A
In BRGDA1.
original residue
variation residue
position
1500
score
100.0
distance
54.059494
seq distance
1159
chain
A
In dbSNP:rs199473265.
original residue
K
variation residue
N
position
1500
score
100.0
distance
54.059494
seq distance
1159
chain
A
In BRGDA1.
original residue
variation residue
position
1500
score
100.0
distance
54.059494
seq distance
1159
chain
A
In LQT3; dbSNP:rs199473070.
original residue
L
variation residue
P
position
212
score
100.0
distance
54.33952
seq distance
68
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473070.
original residue
L
variation residue
Q
position
212
score
100.0
distance
54.33952
seq distance
68
chain
A
In LQT3; dbSNP:rs199473070.
original residue
L
variation residue
P
position
212
score
100.0
distance
54.33952
seq distance
68
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473070.
original residue
L
variation residue
Q
position
212
score
100.0
distance
54.33952
seq distance
68
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473160.
original residue
R
variation residue
P
position
808
score
100.0
distance
54.493523
seq distance
467
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473160.
original residue
R
variation residue
P
position
808
score
100.0
distance
54.493523
seq distance
467
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473634.
original residue
T
variation residue
M
position
1779
score
72.72727272727273
distance
54.642933
seq distance
1438
chain
A
In LQT3 and BRGDA1; dbSNP:rs199473634.
original residue
T
variation residue
M
position
1779
score
72.72727272727273
distance
54.642933
seq distance
1438
chain
A
In BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no domiFalset negative effect.
original residue
L
variation residue
Q
position
812
score
100.0
distance
54.694
seq distance
471
chain
A
In BRGDA1; decreased protein abundance; retained intracellularly; decreased voltage-gated sodium channel activity; hyperpolarizing shift of the voltage dependence of inactivation leading to reduced sodium window current; no domiFalset negative effect.
original residue
L
variation residue
Q
position
812
score
100.0
distance
54.694
seq distance
471
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473269.
original residue
V
variation residue
M
position
1525
score
100.0
distance
54.730038
seq distance
1184
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473269.
original residue
V
variation residue
M
position
1525
score
100.0
distance
54.730038
seq distance
1184
chain
A
Induces accelerated recovery from channel fast inactivation.
original residue
Q
variation residue
K
position
1476
score
100.0
distance
54.77297
seq distance
1135
chain
A
Induces accelerated recovery from channel fast inactivation.
original residue
Q
variation residue
K
position
1476
score
100.0
distance
54.77297
seq distance
1135
chain
A
In LQT3; dbSNP:rs199473071.
original residue
R
variation residue
Q
position
225
score
100.0
distance
54.838932
seq distance
55
chain
A
In PFHB1A, BRGDA1 and LQT3; dbSNP:rs199473072.
original residue
R
variation residue
W
position
225
score
100.0
distance
54.838932
seq distance
55
chain
A
In LQT3; dbSNP:rs199473071.
original residue
R
variation residue
Q
position
225
score
100.0
distance
54.838932
seq distance
55
chain
A
In PFHB1A, BRGDA1 and LQT3; dbSNP:rs199473072.
original residue
R
variation residue
W
position
225
score
100.0
distance
54.838932
seq distance
55
chain
A
Phosphoserine; by PKC
position
1503
score
100.0
distance
55.0342
seq distance
1162
chain
A
Phosphoserine; by PKC
position
1503
score
100.0
distance
55.0342
seq distance
1162
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473150.
original residue
T
variation residue
I
position
731
score
100.0
distance
55.295574
seq distance
390
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473150.
original residue
T
variation residue
I
position
731
score
100.0
distance
55.295574
seq distance
390
chain
A
In LQT3; also in SIDS; dbSNP:rs137854605.
original residue
S
variation residue
N
position
941
score
81.81818181818183
distance
55.483795
seq distance
600
chain
A
In LQT3; also in SIDS; dbSNP:rs137854605.
original residue
S
variation residue
N
position
941
score
81.81818181818183
distance
55.483795
seq distance
600
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473582.
original residue
E
variation residue
K
position
746
score
100.0
distance
55.603607
seq distance
405
chain
A
In dbSNP:rs199473193.
original residue
E
variation residue
K
position
746
score
50.0
distance
55.603607
seq distance
405
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473582.
original residue
E
variation residue
K
position
746
score
100.0
distance
55.603607
seq distance
405
chain
A
In dbSNP:rs199473193.
original residue
E
variation residue
K
position
746
score
50.0
distance
55.603607
seq distance
405
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473164.
original residue
L
variation residue
P
position
839
score
100.0
distance
55.650608
seq distance
498
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473164.
original residue
L
variation residue
P
position
839
score
100.0
distance
55.650608
seq distance
498
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs45514691.
original residue
R
variation residue
C
position
1583
score
100.0
distance
55.927845
seq distance
1242
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473621.
original residue
R
variation residue
H
position
1583
score
100.0
distance
55.927845
seq distance
1242
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs45514691.
original residue
R
variation residue
C
position
1583
score
100.0
distance
55.927845
seq distance
1242
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473621.
original residue
R
variation residue
H
position
1583
score
100.0
distance
55.927845
seq distance
1242
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473275.
original residue
L
variation residue
P
position
1582
score
100.0
distance
56.03809
seq distance
1241
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473275.
original residue
L
variation residue
P
position
1582
score
100.0
distance
56.03809
seq distance
1241
chain
A
In BRGDA1; dbSNP:rs199473074.
original residue
I
variation residue
V
position
230
score
100.0
distance
56.27723
seq distance
50
chain
A
In BRGDA1; dbSNP:rs199473074.
original residue
I
variation residue
V
position
230
score
100.0
distance
56.27723
seq distance
50
chain
A
In LQT3.
original residue
variation residue
begin
1505
end
1507
score
100.0
distance
56.83537
seq distance
1164
chain
A
In LQT3.
original residue
variation residue
begin
1505
end
1507
score
100.0
distance
56.83537
seq distance
1164
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473056.
original residue
N
variation residue
K
position
1269
score
54.54545454545454
distance
56.850002
seq distance
928
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473056.
original residue
N
variation residue
K
position
1269
score
54.54545454545454
distance
56.850002
seq distance
928
chain
A
In BRGDA1; asymptomatic patient; associated with P-1569; dbSNP:rs199473270.
original residue
K
variation residue
R
position
1527
score
100.0
distance
56.976585
seq distance
1186
chain
A
In BRGDA1; asymptomatic patient; associated with P-1569; dbSNP:rs199473270.
original residue
K
variation residue
R
position
1527
score
100.0
distance
56.976585
seq distance
1186
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473162.
original residue
F
variation residue
Y
position
816
score
100.0
distance
57.376102
seq distance
475
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473162.
original residue
F
variation residue
Y
position
816
score
100.0
distance
57.376102
seq distance
475
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473268.
original residue
K
variation residue
N
position
1505
score
100.0
distance
57.86091
seq distance
1164
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473268.
original residue
K
variation residue
N
position
1505
score
100.0
distance
57.86091
seq distance
1164
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473617.
original residue
I
variation residue
K
position
1521
score
100.0
distance
58.419285
seq distance
1180
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473617.
original residue
I
variation residue
K
position
1521
score
100.0
distance
58.419285
seq distance
1180
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473559.
original residue
A
variation residue
V
position
204
score
100.0
distance
58.75733
seq distance
76
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473559.
original residue
A
variation residue
V
position
204
score
100.0
distance
58.75733
seq distance
76
chain
A
In BRGDA1; dbSNP:rs199473584.
original residue
R
variation residue
Q
position
814
score
100.0
distance
58.84417
seq distance
473
chain
A
In BRGDA1; dbSNP:rs199473584.
original residue
R
variation residue
Q
position
814
score
100.0
distance
58.84417
seq distance
473
chain
A
In LQT3.
original residue
variation residue
begin
1507
end
1509
score
100.0
distance
59.221043
seq distance
1166
chain
A
In LQT3.
original residue
variation residue
begin
1507
end
1509
score
100.0
distance
59.221043
seq distance
1166
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473062.
original residue
E
variation residue
K
position
161
score
100.0
distance
59.46774
seq distance
119
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473062.
original residue
E
variation residue
Q
position
161
score
100.0
distance
59.46774
seq distance
119
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473062.
original residue
E
variation residue
K
position
161
score
100.0
distance
59.46774
seq distance
119
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473062.
original residue
E
variation residue
Q
position
161
score
100.0
distance
59.46774
seq distance
119
chain
A
In BRGDA1.
original residue
variation residue
position
1479
score
100.0
distance
59.573364
seq distance
1138
chain
A
In BRGDA1.
original residue
variation residue
position
1479
score
100.0
distance
59.573364
seq distance
1138
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473152.
original residue
Q
variation residue
R
position
750
score
100.0
distance
59.87394
seq distance
409
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473152.
original residue
Q
variation residue
R
position
750
score
100.0
distance
59.87394
seq distance
409
chain
A
In LQT3; dbSNP:rs199473257.
original residue
G
variation residue
E
position
1481
score
100.0
distance
59.952442
seq distance
1140
chain
A
In LQT3; dbSNP:rs199473257.
original residue
G
variation residue
E
position
1481
score
100.0
distance
59.952442
seq distance
1140
chain
A
In BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation.
original residue
K
variation residue
E
position
817
score
100.0
distance
60.895493
seq distance
476
chain
A
In BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation.
original residue
K
variation residue
E
position
817
score
100.0
distance
60.895493
seq distance
476
chain
A
In ATFB10; dbSNP:rs199473060.
original residue
M
variation residue
I
position
138
score
100.0
distance
61.69155
seq distance
142
chain
A
In ATFB10; dbSNP:rs199473060.
original residue
M
variation residue
I
position
138
score
100.0
distance
61.69155
seq distance
142
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473202.
original residue
Y
variation residue
S
position
1199
score
100.0
distance
61.841278
seq distance
858
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473202.
original residue
Y
variation residue
S
position
1199
score
100.0
distance
61.841278
seq distance
858
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473153.
original residue
G
variation residue
R
position
752
score
100.0
distance
61.948032
seq distance
411
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs199473153.
original residue
G
variation residue
R
position
752
score
100.0
distance
61.948032
seq distance
411
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs45471994.
original residue
V
variation residue
I
position
232
score
100.0
distance
61.982597
seq distance
48
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs45471994.
original residue
V
variation residue
I
position
232
score
100.0
distance
61.982597
seq distance
48
chain
A
In BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke; dbSNP:rs137854602.
original residue
R
variation residue
W
position
1512
score
100.0
distance
63.518616
seq distance
1171
chain
A
In BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke; dbSNP:rs137854602.
original residue
R
variation residue
W
position
1512
score
100.0
distance
63.518616
seq distance
1171
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs137854616.
original residue
G
variation residue
S
position
1262
score
100.0
distance
64.498764
seq distance
921
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs137854616.
original residue
G
variation residue
S
position
1262
score
100.0
distance
64.498764
seq distance
921
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473159.
original residue
V
variation residue
I
position
789
score
100.0
distance
66.18523
seq distance
448
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473159.
original residue
V
variation residue
I
position
789
score
100.0
distance
66.18523
seq distance
448
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473557.
original residue
L
variation residue
P
position
136
score
100.0
distance
66.572876
seq distance
144
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473557.
original residue
L
variation residue
P
position
136
score
100.0
distance
66.572876
seq distance
144
chain
A
In dbSNP:rs199473125.
original residue
R
variation residue
H
position
1195
score
50.0
distance
66.613
seq distance
854
chain
A
In dbSNP:rs199473125.
original residue
R
variation residue
H
position
1195
score
50.0
distance
66.613
seq distance
854
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs137854606.
original residue
G
variation residue
C
position
797
score
50.0
distance
66.75846
seq distance
456
chain
A
In BRGDA1 and PFHB1A; dbSNP:rs137854606.
original residue
G
variation residue
C
position
797
score
50.0
distance
66.75846
seq distance
456
chain
A
In BRGDA1; dbSNP:rs199473124.
original residue
L
variation residue
Q
position
1194
score
50.0
distance
67.93135
seq distance
853
chain
A
In BRGDA1; dbSNP:rs199473124.
original residue
L
variation residue
Q
position
1194
score
50.0
distance
67.93135
seq distance
853
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473154.
original residue
G
variation residue
E
position
758
score
100.0
distance
69.17602
seq distance
417
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473154.
original residue
G
variation residue
E
position
758
score
100.0
distance
69.17602
seq distance
417
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473063.
original residue
K
variation residue
N
position
175
score
100.0
distance
70.05091
seq distance
105
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473063.
original residue
K
variation residue
N
position
175
score
100.0
distance
70.05091
seq distance
105
chain
A
In ATFB10; dbSNP:rs199473111.
original residue
E
variation residue
K
position
428
score
63.63636363636363
distance
70.16238
seq distance
87
chain
A
In ATFB10; dbSNP:rs199473111.
original residue
E
variation residue
K
position
428
score
63.63636363636363
distance
70.16238
seq distance
87
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473067.
original residue
A
variation residue
V
position
185
score
100.0
distance
70.24314
seq distance
95
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473067.
original residue
A
variation residue
V
position
185
score
100.0
distance
70.24314
seq distance
95
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
G
position
1193
score
50.0
distance
70.91127
seq distance
852
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473554.
original residue
R
variation residue
Q
position
1193
score
50.0
distance
70.91127
seq distance
852
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
W
position
1193
score
50.0
distance
70.91127
seq distance
852
chain
A
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344.
original residue
R
variation residue
Q
position
1193
score
100.0
distance
70.91127
seq distance
852
chain
A
In LQT3; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
G
position
1193
score
50.0
distance
70.91127
seq distance
852
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473554.
original residue
R
variation residue
Q
position
1193
score
50.0
distance
70.91127
seq distance
852
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473055.
original residue
R
variation residue
W
position
1193
score
50.0
distance
70.91127
seq distance
852
chain
A
In BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential; dbSNP:rs41261344.
original residue
R
variation residue
Q
position
1193
score
100.0
distance
70.91127
seq distance
852
chain
A
In BRGDA1; loss of function; dbSNP:rs199473558.
original residue
T
variation residue
I
position
187
score
100.0
distance
71.5063
seq distance
93
chain
A
In BRGDA1; loss of function; dbSNP:rs199473558.
original residue
T
variation residue
I
position
187
score
100.0
distance
71.5063
seq distance
93
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473156.
original residue
M
variation residue
R
position
764
score
100.0
distance
72.40127
seq distance
423
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473156.
original residue
M
variation residue
R
position
764
score
100.0
distance
72.40127
seq distance
423
chain
A
In LQT3; unknown pathological significance; dbSNP:rs761375502.
original residue
variation residue
position
429
score
54.54545454545454
distance
72.96242
seq distance
88
chain
A
In LQT3; unknown pathological significance; dbSNP:rs761375502.
original residue
variation residue
position
429
score
54.54545454545454
distance
72.96242
seq distance
88
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473149.
original residue
P
variation residue
L
position
717
score
100.0
distance
73.22245
seq distance
376
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473149.
original residue
P
variation residue
L
position
717
score
100.0
distance
73.22245
seq distance
376
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473065.
original residue
A
variation residue
G
position
178
score
100.0
distance
74.99314
seq distance
102
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473065.
original residue
A
variation residue
G
position
178
score
100.0
distance
74.99314
seq distance
102
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473066.
original residue
C
variation residue
R
position
182
score
100.0
distance
75.68071
seq distance
98
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473066.
original residue
C
variation residue
R
position
182
score
100.0
distance
75.68071
seq distance
98
chain
A
In LQT3; dbSNP:rs199473059.
original residue
V
variation residue
L
position
125
score
100.0
distance
76.979485
seq distance
155
chain
A
In LQT3; dbSNP:rs199473059.
original residue
V
variation residue
L
position
125
score
100.0
distance
76.979485
seq distance
155
chain
A
In BRGDA1; dbSNP:rs185492581.
original residue
K
variation residue
E
position
126
score
100.0
distance
78.3713
seq distance
154
chain
A
In BRGDA1; dbSNP:rs185492581.
original residue
K
variation residue
E
position
126
score
100.0
distance
78.3713
seq distance
154
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473158.
original residue
P
variation residue
S
position
773
score
100.0
distance
78.76701
seq distance
432
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473158.
original residue
P
variation residue
S
position
773
score
100.0
distance
78.76701
seq distance
432
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473058.
original residue
R
variation residue
Q
position
121
score
72.72727272727273
distance
80.77321
seq distance
159
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473556.
original residue
R
variation residue
W
position
121
score
72.72727272727273
distance
80.77321
seq distance
159
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473058.
original residue
R
variation residue
Q
position
121
score
72.72727272727273
distance
80.77321
seq distance
159
chain
A
In BRGDA1; unknown pathological significance; dbSNP:rs199473556.
original residue
R
variation residue
W
position
121
score
72.72727272727273
distance
80.77321
seq distance
159
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473157.
original residue
D
variation residue
N
position
772
score
100.0
distance
81.87258
seq distance
431
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473157.
original residue
D
variation residue
N
position
772
score
100.0
distance
81.87258
seq distance
431
chain
A
In dbSNP:rs199473148.
original residue
S
variation residue
F
position
705
score
100.0
distance
90.47936
seq distance
364
chain
A
In dbSNP:rs199473148.
original residue
S
variation residue
F
position
705
score
100.0
distance
90.47936
seq distance
364
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473147.
original residue
P
variation residue
L
position
701
score
72.72727272727273
distance
94.90529
seq distance
360
chain
A
In BRGDA1 and LQT3; dbSNP:rs199473147.
original residue
P
variation residue
L
position
701
score
72.72727272727273
distance
94.90529
seq distance
360
chain
A

Details

Redox score
69.89
PDB code
7dtc
Structure name
voltage-gated sodium channel nav1.5-e1784k
Structure deposition date
2021-01-04
Thiol separation (Å)
5.72
Half-sphere exposure sum
70
Minimum pKa
nan
% buried
nan
Peptide accession
Q14524
Residue number A
280
Residue number B
341
Peptide name
Sodium channel protein type 5 subunit alpha
If this tool was useful for finding a disulphide, please cite: